[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3935400 [NCBI, ExPASy, EBI, Israel, Japan]
Truett M.A.,
Blacher R.,
Burke R.L.,
Caput D.,
Chu C.,
Dina D.,
Hartog K.,
Kuo C.H.,
Masiarz F.R.,
Merryweather J.P.,
Najarian R.,
Pachl C.,
Potter S.J.,
Puma J.,
Quiroga M.,
Rall L.B.,
Randolph A.,
Urdea M.S.,
Valenzuela P., ![]()
Dahl H.-H.M.,
Favalaro J.,
Hansen J.,
Nordfang O.,
Ezban M.;
"Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA.";
DNA 4:333-349(1985).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1038/312330a0; PubMed=6438526 [NCBI, ExPASy, EBI, Israel, Japan]
Wood W.I.,
Capon D.J.,
Simonsen C.C.,
Eaton D.L.,
Gitschier J.,
Keyt B.,
Seeburg P.H.,
Smith D.H.,
Hollingshead P.,
Wion K.L.,
Delwart E.,
Tuddenham E.G.D.,
Vehar G.A.,
Lawn R.M.;
"Expression of active human factor VIII from recombinant DNA clones.";
Nature 312:330-337(1984).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1038/312342a0; PubMed=6438528 [NCBI, ExPASy, EBI, Israel, Japan]
Toole J.J.,
Knopf J.L.,
Wozney J.M.,
Sultzman L.A.,
Buecker J.L.,
Pittman D.D.,
Kaufman R.J.,
Brown E.,
Shoemaker C.,
Orr E.C.,
Amphlett G.W.,
Foster W.B.,
Coe M.L.,
Knutson G.J.,
Fass D.N.,
Hewick R.M.;
"Molecular cloning of a cDNA encoding human antihaemophilic factor.";
Nature 312:342-347(1984).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1093/hmg/1.3.199; PubMed=1303178 [NCBI, ExPASy, EBI, Israel, Japan]
Gitschier J.,
Wood W.I.;
"Sequence of the exon-containing regions of the human factor VIII gene.";
Hum. Mol. Genet. 1:199-200(1992).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-1260 AND VAL-2257.
SeattleSNPs program for genomic applications;
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2064-2070.
de Water N.S.,
Williams R.,
Browett P.J.;
"Factor VIII gene normal intron 20 sequence.";
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases.
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[7]
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PROTEIN SEQUENCE OF 356-378; 727-752 AND 1672-1708, MASS SPECTROMETRY, AND SULFATION AT TYR-365; TYR-737; TYR-738; TYR-742; TYR-1683 AND TYR-1699.
DOI=10.1002/(SICI)1097-0231(19990615)13:11<1016::AID-RCM599>3.0.CO;2-5; PubMed=10368977 [NCBI, ExPASy, EBI, Israel, Japan]
Severs J.C.,
Carnine M.,
Eguizabal H.,
Mock K.K.;
"Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis.";
Rapid Commun. Mass Spectrom. 13:1016-1023(1999).
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[8]
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SULFATION AT TYR-1699.
PubMed=1898735 [NCBI, ExPASy, EBI, Israel, Japan]
Leyte A.,
van Schijndel H.B.,
Niehrs C.,
Huttner W.B.,
Verbeet M.P.,
Mertens K.,
van Mourik J.A.;
"Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor.";
J. Biol. Chem. 266:740-746(1991).
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[9]
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SULFATION AT TYR-365; TYR-1683 AND TYR-1699, AND INTERACTION WITH VWF.
DOI=10.1021/bi00128a003; PubMed=1554716 [NCBI, ExPASy, EBI, Israel, Japan]
Pittman D.D.,
Wang J.H.,
Kaufman R.J.;
"Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII.";
Biochemistry 31:3315-3325(1992).
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[10]
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INTERACTION WITH VWF.
DOI=10.1074/jbc.272.29.18007; PubMed=9218428 [NCBI, ExPASy, EBI, Israel, Japan]
Saenko E.L.,
Scandella D.;
"The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.";
J. Biol. Chem. 272:18007-18014(1997).
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[11]
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DISULFIDE BONDS.
PubMed=7613471 [NCBI, ExPASy, EBI, Israel, Japan]
McMullen B.A.,
Fujikawa K.,
Davie E.W.,
Hedner U.,
Ezban M.;
"Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A).";
Protein Sci. 4:740-746(1995).
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[12]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1021/pr0502065; PubMed=16335952 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.,
Qian W.-J.,
Gritsenko M.A.,
Camp D.G. II,
Monroe M.E.,
Moore R.J.,
Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
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[13]
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STRUCTURE BY NMR OF 2322-2343.
DOI=10.1021/bi00009a033; PubMed=7893714 [NCBI, ExPASy, EBI, Israel, Japan]
Gilbert G.E.,
Baleja J.D.;
"Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy.";
Biochemistry 34:3022-3031(1995).
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[14]
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REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=1902642 [NCBI, ExPASy, EBI, Israel, Japan]
Gitschier J.;
"The molecular basis of hemophilia A.";
Ann. N. Y. Acad. Sci. 614:89-96(1991).
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[15]
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REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=2491949 [NCBI, ExPASy, EBI, Israel, Japan]
White G.C. II,
Shoemaker C.B.;
"Factor VIII gene and hemophilia A.";
Blood 73:1-12(1989).
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[16]
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REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=7728145 [NCBI, ExPASy, EBI, Israel, Japan]
Antonarakis S.E.,
Kazazian H.H. Jr.,
Tuddenham E.G.D.;
"Molecular etiology of factor VIII deficiency in hemophilia A.";
Hum. Mutat. 5:1-22(1995).
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[17]
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VARIANT HEMA GLN-2326.
PubMed=3012775 [NCBI, ExPASy, EBI, Israel, Japan]
Gitschier J.,
Wood W.I.,
Shuman M.A.,
Lawn R.M.;
"Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.";
Science 232:1415-1416(1986).
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[18]
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VARIANT HEMA PRO-2135.
DOI=10.1093/nar/15.23.9797; PubMed=3122181 [NCBI, ExPASy, EBI, Israel, Japan]
Levinson B.,
Janco R.L.,
Phillips J.A. III,
Gitschier J.;
"A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.";
Nucleic Acids Res. 15:9797-9805(1987).
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[19]
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VARIANT HEMA GLN-2228.
PubMed=2833855 [NCBI, ExPASy, EBI, Israel, Japan]
Youssoufian H.,
Antonarakis S.E.,
Bell W.,
Griffin A.M.,
Kazazian H.H. Jr.;
"Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.";
Am. J. Hum. Genet. 42:718-725(1988).
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[20]
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VARIANT HEMA GLY-291.
PubMed=2835904 [NCBI, ExPASy, EBI, Israel, Japan]
Youssoufian H.,
Wong C.,
Aronis S.,
Platokoukis H.,
Kazazian H.H. Jr.,
Antonarakis S.E.;
"Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene.";
Am. J. Hum. Genet. 42:867-871(1988).
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[21]
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VARIANT HEMA CYS-1708.
PubMed=2499363 [NCBI, ExPASy, EBI, Israel, Japan]
O'Brien D.P.,
Tuddenham E.G.;
"Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A.";
Blood 73:2117-2122(1989).
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[22]
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VARIANT HEMA CYS-391.
PubMed=2506948 [NCBI, ExPASy, EBI, Israel, Japan]
Shima M.,
Ware J.,
Yoshioka A.,
Fukui H.,
Fulcher C.A.;
"An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule.";
Blood 74:1612-1617(1989).
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[23]
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VARIANT HEMA LEU-189.
PubMed=2510835 [NCBI, ExPASy, EBI, Israel, Japan]
Chan V.,
Chan T.K.,
Tong T.M.,
Todd D.;
"A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.";
Blood 74:2688-2691(1989).
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[24]
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VARIANT HEMA LEU-2326.
DOI=10.1007/BF00283686; PubMed=2495245 [NCBI, ExPASy, EBI, Israel, Japan]
Inaba H.,
Fujimaki M.,
Kazazian H.H. Jr.,
Antonarakis S.E.;
"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.";
Hum. Genet. 81:335-338(1989).
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[25]
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VARIANT HEMA HIS-391.
PubMed=2498882 [NCBI, ExPASy, EBI, Israel, Japan]
Arai M.,
Inaba H.,
Higuchi M.,
Antonarakis S.E.,
Kazazian H.H. Jr.,
Fujimaki M.,
Hoyer L.W.;
"Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine).";
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989).
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[26]
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VARIANT HEMA CYS-1708.
PubMed=2104766 [NCBI, ExPASy, EBI, Israel, Japan]
Arai M.,
Higuchi M.,
Antonarakis S.E.,
Kazazian H.H. Jr.,
Phillips J.A. III,
Janco R.L.,
Hoyer L.W.;
"Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.";
Blood 75:384-389(1990).
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[27]
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VARIANTS HEMA GLN-2228 AND LEU-2326.
PubMed=2105106 [NCBI, ExPASy, EBI, Israel, Japan]
Casula L.,
Murru S.,
Pecorara M.,
Ristaldi M.S.,
Restagno G.,
Mancuso G.,
Morfini M.,
de Biasi R.,
Baudo F.,
Carbonara A.;
"Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.";
Blood 75:662-670(1990).
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[28]
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VARIANT HEMA CYS-391.
PubMed=1973901 [NCBI, ExPASy, EBI, Israel, Japan]
Pattinson J.K.,
McVey J.H.,
Boon M.,
Ajani A.,
Tuddenham E.G.;
"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site.";
Br. J. Haematol. 75:73-77(1990).
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[29]
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VARIANTS HEMA PHE-1699 AND CYS-1708.
DOI=10.1016/0888-7543(90)90448-4; PubMed=2105906 [NCBI, ExPASy, EBI, Israel, Japan]
Higuchi M.,
Wong C.,
Kochhan L.,
Olek K.,
Aronis S.,
Kasper C.K.,
Kazazian H.H. Jr.,
Antonarakis S.E.;
"Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.";
Genomics 6:65-71(1990).
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[30]
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VARIANTS HEMA CYS-1728 AND ASP-1941.
DOI=10.1016/0888-7543(90)90569-G; PubMed=2106480 [NCBI, ExPASy, EBI, Israel, Japan]
Traystman M.D.,
Higuchi M.,
Kasper C.K.,
Antonarakis S.E.,
Kazazian H.H. Jr.;
"Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.";
Genomics 6:293-301(1990).
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[31]
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VARIANTS HEMA LEU-345 AND ARG-348.
PubMed=2107542 [NCBI, ExPASy, EBI, Israel, Japan]
Kogan S.,
Gitschier J.;
"Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.";
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990).
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[32]
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VARIANTS HEMA LYS-1723 AND SER-2319.
DOI=10.1007/BF00197155; PubMed=1908817 [NCBI, ExPASy, EBI, Israel, Japan]
Paynton C.,
Sarkar G.,
Sommer S.S.;
"Identification of mutations in two families with sporadic hemophilia A.";
Hum. Genet. 87:397-400(1991).
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[33]
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VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323.
PubMed=1908096 [NCBI, ExPASy, EBI, Israel, Japan]
Higuchi M.,
Kazazian H.H. Jr.,
Kasch L.,
Warren T.C.,
McGinniss M.J.,
Phillips J.A. III,
Kasper C.,
Janco R.,
Antonarakis S.E.;
"Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.";
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991).
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[34]
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VARIANTS.
PubMed=1924291 [NCBI, ExPASy, EBI, Israel, Japan]
Higuchi M.,
Antonarakis S.E.,
Kasch L.,
Oldenburg J.,
Economou-Petersen E.,
Olek K.,
Arai M.,
Inaba H.,
Kazazian H.H. Jr.;
"Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.";
Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991).
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[35]
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VARIANTS HEMA CYS-1708 AND HIS-1708.
DOI=10.1016/0049-3848(91)90098-H; PubMed=1851341 [NCBI, ExPASy, EBI, Israel, Japan]
Schwaab R.,
Ludwig M.,
Kochhan L.,
Oldenburg J.,
McVey J.H.,
Egli H.,
Brackmann H.H.,
Olek K.;
"Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.";
Thromb. Res. 61:225-234(1991).
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[36]
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VARIANTS HEMA LYS-291 AND GLN-1960.
PubMed=1356412 [NCBI, ExPASy, EBI, Israel, Japan]
Krepelova A.,
Vorlova Z.,
Acquila M.,
Mori P.;
"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.";
Br. J. Haematol. 81:458-458(1992).
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[37]
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VARIANTS HEMA PRO-1845 AND PRO-2224 DEL.
DOI=10.1016/0888-7543(92)90189-Y; PubMed=1639429 [NCBI, ExPASy, EBI, Israel, Japan]
Economou E.P.,
Kazazian H.H. Jr.,
Antonarakis S.E.;
"Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).";
Genomics 13:909-911(1992).
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[38]
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VARIANT HEMA GLY-1715.
DOI=10.1007/BF00207049; PubMed=1349567 [NCBI, ExPASy, EBI, Israel, Japan]
Reiner A.P.,
Thompson A.R.;
"Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.";
Hum. Genet. 89:88-94(1992).
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[39]
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VARIANT HEMA LEU-1960.
PubMed=1301194 [NCBI, ExPASy, EBI, Israel, Japan]
Nafa K.,
Baudis M.,
Deburgrave N.,
Bardin J.M.,
Sultan Y.,
Kaplan J.C.,
Delpech M.;
"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.";
Hum. Mutat. 1:77-78(1992).
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[40]
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VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550; GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178 AND CYS-2248.
PubMed=1301932 [NCBI, ExPASy, EBI, Israel, Japan]
Diamond C.,
Kogan S.,
Levinson B.,
Gitschier J.;
"Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.";
Hum. Mutat. 1:248-257(1992).
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[41]
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VARIANTS HEMA CYS-1800 AND ILE-2173.
PubMed=1301960 [NCBI, ExPASy, EBI, Israel, Japan]
Jonsdottir S.,
Diamond C.,
Levinson B.,
Magnusson S.,
Jensson O.,
Gitschier J.;
"Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.";
Hum. Mutat. 1:506-508(1992).
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[42]
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VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178.
DOI=10.1006/geno.1993.1073; PubMed=8449505 [NCBI, ExPASy, EBI, Israel, Japan]
McGinniss M.J.,
Kazazian H.H. Jr.,
Hoyer L.W.,
Bi L.,
Inaba H.,
Antonarakis S.E.;
"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.";
Genomics 15:392-398(1993).
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[43]
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VARIANTS HEMA ILE-299 AND ASN-450.
PubMed=8322269 [NCBI, ExPASy, EBI, Israel, Japan]
Pieneman W.C.,
Reitsma P.H.,
Briet E.;
"Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.";
Thromb. Haemost. 69:473-475(1993).
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[44]
|
VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178; VAL-2257 AND THR-2281.
PubMed=7579394 [NCBI, ExPASy, EBI, Israel, Japan]
Arruda V.R.,
Pieneman W.C.,
Reitsma P.H.,
Deutz-Terlouw P.P.,
Annichino-Bizzacchi J.M.,
Brieet E.,
Costa F.F.;
"Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.";
Blood 86:3015-3020(1995).
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[45]
|
VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705; CYS-1708; TRP-2016 AND ARG-2119.
PubMed=7794769 [NCBI, ExPASy, EBI, Israel, Japan]
Pieneman W.C.,
Deutz-Terlouw P.P.,
Reitsma P.H.,
Brieet E.;
"Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients.";
Br. J. Haematol. 90:442-449(1995).
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[46]
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VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888.
DOI=10.1007/BF00223865; PubMed=7759074 [NCBI, ExPASy, EBI, Israel, Japan]
Bidichandani S.I.,
Lanyon W.G.,
Shiach C.R.,
Lowe G.D.O.,
Connor J.M.;
"Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.";
Hum. Genet. 95:531-538(1995).
|
[47]
|
VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344.
PubMed=8644728 [NCBI, ExPASy, EBI, Israel, Japan]
Becker J.,
Schwaab R.,
Moeller-Taube A.,
Schwaab U.,
Schmidt W.,
Brackmann H.H.,
Grimm T.,
Olek K.,
Oldenburg J.;
"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.";
Am. J. Hum. Genet. 58:657-670(1996).
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[48]
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VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169, AND VARIANT MET-2242.
DOI=10.1046/j.1365-2141.1996.4981042.x; PubMed=8639447 [NCBI, ExPASy, EBI, Israel, Japan]
Chan V.,
Pang A.,
Chan T.P.T.,
Chan V.W.-Y.,
Chan T.K.;
"Molecular characterization of haemophilia A in southern Chinese.";
Br. J. Haematol. 93:451-456(1996).
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[49]
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VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951.
DOI=10.1046/j.1365-2141.1996.d01-1792.x; PubMed=8759905 [NCBI, ExPASy, EBI, Israel, Japan]
Rudzki Z.,
Duncan E.M.,
Casey G.J.,
Neumann M.,
Favaloro E.J.,
Lloyd J.V.;
"Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.";
Br. J. Haematol. 94:400-406(1996).
|
[50]
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VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966.
PubMed=9029040 [NCBI, ExPASy, EBI, Israel, Japan]
Mazurier C.,
Gaucher C.,
Jorieux S.,
Parquet-Gernez A.;
"Mutations in the FVIII gene in seven families with mild haemophilia A.";
Br. J. Haematol. 96:426-427(1997).
|
[51]
|
VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304.
DOI=10.1046/j.1365-2141.1997.2963113.x; PubMed=9326186 [NCBI, ExPASy, EBI, Israel, Japan]
Morichika S.,
Shima M.,
Kamisue S.,
Tanaka I.,
Imanaka Y.,
Suzuki H.,
Shibata H.,
Pemberton S.,
Gale K.,
McVey J.,
Tuddenham E.G.D.,
Yoshioka A.;
"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism.";
Br. J. Haematol. 98:901-906(1997).
|
[52]
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VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106.
DOI=10.1007/s004390050543; PubMed=9341862 [NCBI, ExPASy, EBI, Israel, Japan]
Tavassoli K.,
Eigel A.,
Pollmann H.,
Horst J.;
"Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.";
Hum. Genet. 100:508-511(1997).
|
[53]
|
VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038.
DOI=10.1046/j.1365-2141.1998.01122.x; PubMed=9886318 [NCBI, ExPASy, EBI, Israel, Japan]
Liu M.,
Murphy M.E.P.,
Thompson A.R.;
"A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.";
Br. J. Haematol. 103:1051-1060(1998).
|
[54]
|
VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800.
DOI=10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.3.CO;2-Z; PubMed=9450898 [NCBI, ExPASy, EBI, Israel, Japan]
Maugard C.,
Tuffery S.,
Aguilar-Martinez P.,
Schved J.-F.,
Gris J.-C.,
Demaille J.,
Claustres M.;
"Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.";
Hum. Mutat. 11:18-22(1998).
|
[55]
|
VARIANT HEMA HIS-2182.
DOI=10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.3.CO;2-O; PubMed=10215414 [NCBI, ExPASy, EBI, Israel, Japan]
Theophilus B.D.M.,
Enayat M.S.,
Higuchi M.,
Kazazian H.H. Jr.,
Antonarakis S.E.,
Hill F.G.H.;
"Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.";
Hum. Mutat. 11:334-334(1998).
|
[56]
|
VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105.
DOI=10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.3.CO;2-1; PubMed=9603440 [NCBI, ExPASy, EBI, Israel, Japan]
Freson K.,
Peerlinck K.,
Aguirre T.,
Arnout J.,
Vermylen J.,
Cassiman J.-J.,
Matthijs G.;
"Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.";
Hum. Mutat. 11:470-479(1998).
|
[57]
|
VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204.
PubMed=9452104 [NCBI, ExPASy, EBI, Israel, Japan]
Tavassoli K.,
Eigel A.,
Dworniczak B.,
Valtseva E.,
Horst J.;
"Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).";
Hum. Mutat. Suppl. 1:S260-S262(1998).
|
[58]
|
VARIANTS HEMA.
DOI=10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.3.CO;2-3; PubMed=9792405 [NCBI, ExPASy, EBI, Israel, Japan]
Tavassoli K.,
Eigel A.,
Wilke K.,
Pollmann H.,
Horst J.;
"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.";
Hum. Mutat. 12:301-303(1998).
|
[59]
|
VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319.
DOI=10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A; PubMed=9829908 [NCBI, ExPASy, EBI, Israel, Japan]
Laprise S.L.,
Mak E.K.,
Killoran K.A.,
Layman L.C.,
Gray M.R.;
"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.";
Hum. Mutat. 12:393-402(1998).
|
[60]
|
VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, AND VARIANT VAL-2257.
PubMed=9569180 [NCBI, ExPASy, EBI, Israel, Japan]
Williams I.J.,
Abuzenadah A.,
Winship P.R.,
Preston F.E.,
Dolan G.,
Wright J.,
Peake I.R.,
Goodeve A.C.;
"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.";
Thromb. Haemost. 79:723-726(1998).
|
[61]
|
VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279.
PubMed=9569189 [NCBI, ExPASy, EBI, Israel, Japan]
UK haemophilia centre directors organisation;
Hay C.R.M.,
Ludlam C.A.,
Colvin B.T.,
Hill F.G.H.,
Preston F.E.,
Wasseem N.,
Bagnall R.,
Peake I.R.,
Berntorp E.,
Mauser Bunschoten E.P.,
Fijnvandraat K.,
Kasper C.K.,
White G.,
Santagostino E.;
"Factor VIII inhibitors in mild and moderate-severity haemophilia A.";
Thromb. Haemost. 79:762-766(1998).
|
[62]
|
VARIANT HEMA LEU-1973.
DOI=10.1046/j.1365-2141.1999.01460.x; PubMed=10554831 [NCBI, ExPASy, EBI, Israel, Japan]
Keeling D.M.,
Sukhu K.,
Kemball-Cook G.,
Waseem N.,
Bagnall R.,
Lloyd J.V.;
"Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.";
Br. J. Haematol. 105:1123-1126(1999).
|
[63]
|
VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326.
DOI=10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.3.CO;2-5; PubMed=10338101 [NCBI, ExPASy, EBI, Israel, Japan]
Strmecki L.,
Benedik-Dolnicar M.,
Vouk K.,
Komel R.;
"Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum.";
Hum. Mutat. 13:413-413(1999).
|
[64]
|
VARIANTS HEMA ARG-202 AND HIS-301.
DOI=10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU14>3.3.CO;2-0; PubMed=10408784 [NCBI, ExPASy, EBI, Israel, Japan]
Moeller-Morlang K.,
Tavassoli K.,
Eigel A.,
Pollmann H.,
Horst J.;
"Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation.";
Hum. Mutat. 13:504-504(1999).
|
[65]
|
VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326.
PubMed=10404764 [NCBI, ExPASy, EBI, Israel, Japan]
The haemophilia centres;
Waseem N.H.,
Bagnall R.,
Green P.M.,
Giannelli F.;
"Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch.";
Thromb. Haemost. 81:900-905(1999).
|
[66]
|
VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, AND CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169.
PubMed=10910910 [NCBI, ExPASy, EBI, Israel, Japan]
Jacquemin M.,
Lavend'homme R.,
Benhida A.,
Vanzieleghem B.,
d'Oiron R.,
Lavergne J.-M.,
Brackmann H.H.,
Schwaab R.,
VandenDriessche T.,
Chuah M.K.L.,
Hoylaerts M.,
Gilles J.G.G.,
Peerlinck K.,
Vermylen J.,
Saint-Remy J.-M.R.;
"A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor.";
Blood 96:958-965(2000).
|
[67]
|
VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339.
PubMed=10910913 [NCBI, ExPASy, EBI, Israel, Japan]
Liu M.-L.,
Shen B.W.,
Nakaya S.,
Pratt K.P.,
Fujikawa K.,
Davie E.W.,
Stoddard B.L.,
Thompson A.R.;
"Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.";
Blood 96:979-987(2000).
|
[68]
|
VARIANTS HEMA CYS-612 AND SER-637, AND CHARACTERIZATION OF VARIANTS HEMA CYS-612 AND SER-637.
DOI=10.1046/j.1365-2141.2000.01834.x; PubMed=10691849 [NCBI, ExPASy, EBI, Israel, Japan]
Roelse J.C.,
De Laaf R.T.M.,
Timmermans S.M.H.,
Peters M.,
Van Mourik J.A.,
Voorberg J.;
"Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.";
Br. J. Haematol. 108:241-246(2000).
|
[69]
|
VARIANT HEMA ILE-713.
DOI=10.1046/j.1365-2141.2000.02021.x; PubMed=10886198 [NCBI, ExPASy, EBI, Israel, Japan]
Schwaab R.,
Oldenburg J.,
Kemball-Cook G.,
Albert T.,
Juhler C.,
Hanfland P.,
Ingerslev J.;
"Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.";
Br. J. Haematol. 109:523-528(2000).
|
[70]
|
VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332.
PubMed=10800171 [NCBI, ExPASy, EBI, Israel, Japan]
Tagariello G.,
Belvini D.,
Salviato R.,
Are A.,
De Biasi E.,
Goodeve A.,
Davoli P.;
"Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.";
Haematologica 85:525-529(2000).
|
[71]
|
VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000; HIS-2169 AND PRO-2228.
PubMed=10896236 [NCBI, ExPASy, EBI, Israel, Japan]
Recombinate PUP study group;
Goodeve A.C.,
Williams I.,
Bray G.L.,
Peake I.R.;
"Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate).";
Thromb. Haemost. 83:844-848(2000).
|
[72]
|
VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344.
DOI=10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E; PubMed=10612839 [NCBI, ExPASy, EBI, Israel, Japan]
Akkarapatumwong V.,
Oranwiroon S.,
Pung-amritt P.,
Treesucon A.,
Thanootarakul P.,
Veerakul G.,
Mahasandana C.,
Panyim S.,
Yenchitsomanus P.;
"Mutations of the factor VIII gene in Thai hemophilia A patients.";
Hum. Mutat. 15:117-118(2000).
|
[73]
|
VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498; ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182; SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326.
DOI=10.1086/321285; PubMed=11410838 [NCBI, ExPASy, EBI, Israel, Japan]
Leuer M.,
Oldenburg J.,
Lavergne J.-M.,
Ludwig M.,
Fregin A.,
Eigel A.,
Ljung R.,
Goodeve A.,
Peake I.,
Olek K.;
"Somatic mosaicism in hemophilia A: a fairly common event.";
Am. J. Hum. Genet. 69:75-87(2001).
|
[74]
|
VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307.
DOI=10.1046/j.1365-2141.2001.02671.x; PubMed=11298607 [NCBI, ExPASy, EBI, Israel, Japan]
Ivaskevicius V.,
Jurgutis R.,
Rost S.,
Muller A.,
Schmitt C.,
Wulff K.,
Herrmann F.H.,
Muller C.R.,
Schwaab R.,
Oldenburg J.;
"Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.";
Br. J. Haematol. 112:1062-1070(2001).
|
[75]
|
VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228.
DOI=10.1046/j.1365-2516.2001.00528.x; PubMed=11442643 [NCBI, ExPASy, EBI, Israel, Japan]
Theophilus B.D.M.,
Enayat M.S.,
Williams M.D.,
Hill F.G.H.;
"Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.";
Haemophilia 7:381-391(2001).
|
[76]
|
VARIANT HEMA ALA-92.
PubMed=11442647 [NCBI, ExPASy, EBI, Israel, Japan]
Bauduer F.,
Ducout L.,
Bendriss P.,
Falaises B.,
Lavergne J.-M.;
"Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation.";
Haemophilia 7:419-421(2001).
|
[77]
|
VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323.
DOI=10.1046/j.1365-2516.2001.00548.x; PubMed=11554935 [NCBI, ExPASy, EBI, Israel, Japan]
Timur A.A.,
Guergey A.,
Aktuglu G.,
Kavakli K.,
Canatan D.,
Olek K.,
Caglayan S.H.;
"Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.";
Haemophilia 7:475-481(2001).
|
[78]
|
VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326.
DOI=10.1002/humu.1234; PubMed=11748850 [NCBI, ExPASy, EBI, Israel, Japan]
Bogdanova N.,
Lemcke B.,
Markoff A.,
Pollmann H.,
Dworniczak B.,
Eigel A.,
Horst J.;
"Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.";
Hum. Mutat. 18:546-546(2001).
|
[79]
|
VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182.
PubMed=11341489 [NCBI, ExPASy, EBI, Israel, Japan]
Vidal F.,
Farssac E.,
Altisent C.,
Puig L.,
Gallardo D.;
"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.";
Thromb. Haemost. 85:580-583(2001).
|
[80]
|
ERRATUM.
Vidal F.,
Farssac E.,
Altisent C.,
Puig L.,
Gallardo D.;
Thromb. Haemost. 86:727-727(2001).
|
[81]
|
VARIANT HEMA CYS-35.
DOI=10.1182/blood-2002-01-0277; PubMed=12351418 [NCBI, ExPASy, EBI, Israel, Japan]
Valleix S.,
Vinciguerra C.,
Lavergne J.-M.,
Leuer M.,
Delpech M.,
Negrier C.;
"Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.";
Blood 100:3034-3036(2002).
|
[82]
|
VARIANT HEMA GLY-198.
DOI=10.1046/j.1365-2141.2002.03819.x; PubMed=12406074 [NCBI, ExPASy, EBI, Israel, Japan]
Mazurier C.,
Parquet-Gernez A.,
Gaucher C.,
Lavergne J.-M.,
Goudemand J.;
"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.";
Br. J. Haematol. 119:390-392(2002).
|
[83]
|
VARIANTS HEMA PRO-97 AND GLY-2193.
DOI=10.1046/j.1365-2516.2002.00661.x; PubMed=12199686 [NCBI, ExPASy, EBI, Israel, Japan]
Sukarova-Stefanovska E.,
Zisovski N.,
Muratovska O.,
Kostova S.,
Efremov G.D.;
"Three novel point mutations causing haemophilia A.";
Haemophilia 8:715-718(2002).
|
[84]
|
VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330.
DOI=10.1002/humu.10056; PubMed=11857744 [NCBI, ExPASy, EBI, Israel, Japan]
Cutler J.A.,
Mitchell M.J.,
Smith M.P.,
Savidge G.F.;
"The identification and classification of 41 novel mutations in the factor VIII gene (F8C).";
Hum. Mutat. 19:274-278(2002).
|
[85]
|
VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330.
DOI=10.1002/humu.9052; PubMed=12203998 [NCBI, ExPASy, EBI, Israel, Japan]
Frusconi S.,
Passerini I.,
Girolami F.,
Masieri M.,
Linari S.,
Longo G.,
Morfini M.,
Torricelli F.;
"Identification of seven novel mutations of F8C by DHPLC.";
Hum. Mutat. 20:231-232(2002).
|
[86]
|
VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439; CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875; ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251; LEU-2290; CYS-2323 AND TYR-2345.
DOI=10.1002/humu.10119; PubMed=12325022 [NCBI, ExPASy, EBI, Israel, Japan]
Citron M.,
Godmilow L.,
Ganguly T.,
Ganguly A.;
"High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.";
Hum. Mutat. 20:267-274(2002).
|
[87]
|
VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326.
PubMed=11858487 [NCBI, ExPASy, EBI, Israel, Japan]
Liu M.-L.,
Nakaya S.,
Thompson A.R.;
"Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.";
Thromb. Haemost. 87:273-276(2002).
|
[88]
|
VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326, AND VARIANT GLU-1260.
PubMed=12195713 [NCBI, ExPASy, EBI, Israel, Japan]
Klopp N.,
Oldenburg J.,
Uen C.,
Schneppenheim R.,
Graw J.;
"11 hemophilia A patients without mutations in the factor VIII encoding gene.";
Thromb. Haemost. 88:357-360(2002).
|
[89]
|
VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS.
DOI=10.1046/j.1365-2141.2003.04494.x; PubMed=12930394 [NCBI, ExPASy, EBI, Israel, Japan]
Bicocchi M.P.,
Pasino M.,
Lanza T.,
Bottini F.,
Boeri E.,
Mori P.G.,
Molinari A.C.,
Rosano C.,
Acquila M.;
"Analysis of 18 novel mutations in the factor VIII gene.";
Br. J. Haematol. 122:810-817(2003).
|
[90]
|
VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345.
DOI=10.1046/j.1538-7836.2003.00149.x; PubMed=12871415 [NCBI, ExPASy, EBI, Israel, Japan]
Habart D.,
Kalabova D.,
Novotny M.,
Vorlova Z.;
"Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.";
J. Thromb. Haemost. 1:773-781(2003).
|
[91]
|
VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344.
DOI=10.1046/j.1365-2516.2003.00729.x; PubMed=12614369 [NCBI, ExPASy, EBI, Israel, Japan]
Yenchitsomanus P.,
Akkarapatumwong V.,
Pung-Amritt P.,
Intorasoot S.,
Thanootarakul P.,
Oranwiroon S.,
Veerakul G.,
Mahasandana C.;
"Genotype and phenotype of haemophilia A in Thai patients.";
Haemophilia 9:179-186(2003).
|
[92]
|
VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251.
DOI=10.1002/ajh.20234; PubMed=15682412 [NCBI, ExPASy, EBI, Israel, Japan]
Bicocchi M.P.,
Pasino M.,
Lanza T.,
Bottini F.,
Molinari A.C.,
Caprino D.,
Rosano C.,
Acquila M.;
"Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.";
Am. J. Hematol. 78:117-122(2005).
|
[93]
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VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TR | |
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