[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=6959130 [NCBI, ExPASy, EBI, Israel, Japan]
Kurachi K.,
Davie E.W.;
"Isolation and characterization of a cDNA coding for human factor IX.";
Proc. Natl. Acad. Sci. U.S.A. 79:6461-6464(1982).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
DOI=10.1093/nar/11.8.2325; PubMed=6687940 [NCBI, ExPASy, EBI, Israel, Japan]
Jaye M.,
de la Salle H.,
Schamber F.,
Balland A.,
Kohli V.,
Findeli A.,
Tolstoshev P.,
Lecocq J.-P.;
"Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.";
Nucleic Acids Res. 11:2325-2335(1983).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-194.
PubMed=6329734 [NCBI, ExPASy, EBI, Israel, Japan]
Anson D.S.,
Choo K.H.,
Rees D.J.G.,
Giannelli F.,
Gould K.G.,
Huddleston J.A.,
Brownlee G.G.;
"The gene structure of human anti-haemophilic factor IX.";
EMBO J. 3:1053-1060(1984).
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-194.
DOI=10.1021/bi00335a049; PubMed=2994716 [NCBI, ExPASy, EBI, Israel, Japan]
Yoshitake S.,
Schach B.G.,
Foster D.C.,
Davie E.W.,
Kurachi K.;
"Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).";
Biochemistry 24:3736-3750(1985).
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALA-194.
PubMed=3857619 [NCBI, ExPASy, EBI, Israel, Japan]
McGraw R.A.,
Davis L.M.,
Noyes C.M.,
Lundblad R.L.,
Roberts H.R.,
Graham J.B.,
Stafford D.W.;
"Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.";
Proc. Natl. Acad. Sci. U.S.A. 82:2847-2851(1985).
|
[6]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-461.
SeattleSNPs program for genomic applications;
Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases.
|
[7]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
|
[8]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[9]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-84, AND VARIANT HEMB GLN-43.
PubMed=8295821 [NCBI, ExPASy, EBI, Israel, Japan]
de la Salle C.,
Charmantier J.L.,
Ravanat C.,
Ohlmann P.,
Hartmann M.L.,
Schuhler S.,
Bischoff R.,
Ebel C.,
Roecklin D.,
Balland A.;
"The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.";
Nouv. Rev. Fr. Hematol. 35:473-480(1993).
|
[10]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 36-326.
TISSUE=Liver;
DOI=10.1007/BF01534851; PubMed=6089357 [NCBI, ExPASy, EBI, Israel, Japan]
Jagadeeswaran P.,
Lavelle D.E.,
Kaul R.,
Mohandas T.,
Warren S.T.;
"Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.";
Somat. Cell Mol. Genet. 10:465-473(1984).
|
[11]
|
PROTEIN SEQUENCE OF 47-461, AND VARIANT HEMB TRP-226.
PubMed=2592373 [NCBI, ExPASy, EBI, Israel, Japan]
Suehiro K.,
Kawabata S.,
Miyata T.,
Takeya H.,
Takamatsu J.,
Ogata K.,
Kamiya T.,
Saito H.,
Niho Y.,
Iwanaga S.;
"Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.";
J. Biol. Chem. 264:21257-21265(1989).
|
[12]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 290-359.
PubMed=3340835 [NCBI, ExPASy, EBI, Israel, Japan]
Stoflet E.S.,
Koeberl D.D.,
Sarkar G.,
Sommer S.S.;
"Genomic amplification with transcript sequencing.";
Science 239:491-494(1988).
|
[13]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 444-461.
PubMed=8236150 [NCBI, ExPASy, EBI, Israel, Japan]
de la Salle C.,
Charmantier J.L.,
Baas M.-J.,
Schwartz A.,
Wiesel M.L.,
Grunebaum L.,
Cazenave J.-P.;
"A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B.";
Thromb. Haemost. 70:370-371(1993).
|
[14]
|
HYDROXYLATION AT ASP-110.
DOI=10.1016/0006-291X(83)90961-0; PubMed=6688526 [NCBI, ExPASy, EBI, Israel, Japan]
McMullen B.A.,
Fujikawa K.,
Kisiel W.;
"The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens.";
Biochem. Biophys. Res. Commun. 115:8-14(1983).
|
[15]
|
PROTEOLYTIC PROCESSING, AND ACTIVE SITE.
PubMed=659613 [NCBI, ExPASy, EBI, Israel, Japan]
di Scipio R.G.,
Kurachi K.,
Davie E.W.;
"Activation of human factor IX (Christmas factor).";
J. Clin. Invest. 61:1528-1538(1978).
|
[16]
|
CALCIUM-BINDING DATA.
PubMed=6425296 [NCBI, ExPASy, EBI, Israel, Japan]
Morita T.,
Isaacs B.S.,
Esmon C.T.,
Johnson A.E.;
"Derivatives of blood coagulation factor IX contain a high affinity Ca2+-binding site that lacks gamma-carboxyglutamic acid.";
J. Biol. Chem. 259:5698-5704(1984).
|
[17]
|
ERRATUM.
Morita T.,
Isaacs B.S.,
Esmon C.T.,
Johnson A.E.;
J. Biol. Chem. 260:2583-2583(1985).
|
[18]
|
STRUCTURE OF CARBOHYDRATE ON SER-99.
PubMed=2511201 [NCBI, ExPASy, EBI, Israel, Japan]
Nishimura H.,
Kawabata S.,
Kisiel W.,
Hase S.,
Ikenaka T.,
Takao T.,
Shimonishi Y.,
Iwanaga S.;
"Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z.";
J. Biol. Chem. 264:20320-20325(1989).
|
[19]
|
STRUCTURE OF CARBOHYDRATE ON SER-99.
PubMed=2129367 [NCBI, ExPASy, EBI, Israel, Japan]
Iwanaga S.,
Nishimura H.,
Kawabata S.,
Kisiel W.,
Hase S.,
Ikenaka T.;
"A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z.";
Adv. Exp. Med. Biol. 281:121-131(1990).
|
[20]
|
STRUCTURE OF CARBOHYDRATE ON SER-107.
PubMed=1517205 [NCBI, ExPASy, EBI, Israel, Japan]
Nishimura H.,
Takao T.,
Hase S.,
Shimonishi Y.,
Iwanaga S.;
"Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue.";
J. Biol. Chem. 267:17520-17525(1992).
|
[21]
|
GLYCOSYLATION AT THR-205 AND THR-215.
DOI=10.1021/bi00183a021; PubMed=8172892 [NCBI, ExPASy, EBI, Israel, Japan]
Agarwala K.L.,
Kawabata S.,
Takao T.,
Murata H.,
Shimonishi Y.,
Nishimura H.,
Iwanaga S.;
"Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.";
Biochemistry 33:5167-5171(1994).
|
[22]
|
PHOSPHORYLATION AT SER-114.
Harris R.J.,
Papac D.I.,
Truong L.,
Smith K.J.;
"Partial phosphorylation of serine-68 in EGF-1 of human factor IX.";
(In) Proceedings of XIth international conference on methods in protein structure analysis, pp.50-50, Annecy (1996).
|
[23]
|
POST-TRANSLATIONAL MODIFICATIONS.
DOI=10.1182/blood.V97.1.130; PubMed=11133752 [NCBI, ExPASy, EBI, Israel, Japan]
Arruda V.R.,
Hagstrom J.N.,
Deitch J.,
Heiman-Patterson T.,
Camire R.M.,
Chu K.,
Fields P.A.,
Herzog R.W.,
Couto L.B.,
Larson P.J.,
High K.A.;
"Posttranslational modifications of recombinant myotube-synthesized human factor IX.";
Blood 97:130-138(2001).
|
[24]
|
STRUCTURE BY NMR OF 47-93.
DOI=10.1074/jbc.270.14.7980; PubMed=7713897 [NCBI, ExPASy, EBI, Israel, Japan]
Freedman S.J.,
Furie B.C.,
Furie B.,
Baleja J.D.;
"Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy.";
J. Biol. Chem. 270:7980-7987(1995).
|
[25]
|
STRUCTURE BY NMR OF 47-93.
DOI=10.1021/bi00038a005; PubMed=7547952 [NCBI, ExPASy, EBI, Israel, Japan]
Freedman S.J.,
Furie B.C.,
Furie B.,
Baleja J.D.;
"Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX.";
Biochemistry 34:12126-12137(1995).
|
[26]
|
STRUCTURE BY NMR OF 47-93.
DOI=10.1074/jbc.271.27.16227; PubMed=8663165 [NCBI, ExPASy, EBI, Israel, Japan]
Freedman S.J.,
Blostein M.D.,
Baleja J.D.,
Jacobs M.,
Furie B.C.,
Furie B.;
"Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX.";
J. Biol. Chem. 271:16227-16236(1996).
|
[27]
|
STRUCTURE BY NMR OF 47-93.
DOI=10.1021/bi962250r; PubMed=9047312 [NCBI, ExPASy, EBI, Israel, Japan]
Li L.,
Darden T.A.,
Freedman S.J.,
Furie B.C.,
Furie B.,
Baleja J.D.,
Smith H.,
Hiskey R.G.,
Pedersen L.G.;
"Refinement of the NMR solution structure of the gamma-carboxyglutamic acid domain of coagulation factor IX using molecular dynamics simulation with initial Ca2+ positions determined by a genetic algorithm.";
Biochemistry 36:2132-2138(1997).
|
[28]
|
STRUCTURE BY NMR OF 91-133.
DOI=10.1021/bi00244a006; PubMed=1854745 [NCBI, ExPASy, EBI, Israel, Japan]
Huang L.H.,
Cheng H.,
Pardi A.,
Tam J.P.,
Sweeney W.V.;
"Sequence-specific 1H NMR assignments, secondary structure, and location of the calcium binding site in the first epidermal growth factor like domain of blood coagulation factor IX.";
Biochemistry 30:7402-7409(1991).
|
[29]
|
STRUCTURE BY NMR OF 92-130.
PubMed=1304885 [NCBI, ExPASy, EBI, Israel, Japan]
Baron M.,
Norman D.G.,
Harvey T.S.,
Handford P.A.,
Mayhew M.,
Tse A.G.D.,
Brownlee G.G.,
Campbell I.D.C.;
"The three-dimensional structure of the first EGF-like module of human factor IX: comparison with EGF and TGF-alpha.";
Protein Sci. 1:81-90(1992).
|
[30]
|
X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 92-130.
DOI=10.1016/0092-8674(95)90059-4; PubMed=7606779 [NCBI, ExPASy, EBI, Israel, Japan]
Rao Z.,
Handford P.,
Mayhew M.,
Knott V.,
Brownlee G.G.,
Stuart D.;
"The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions.";
Cell 82:131-141(1995).
|
[31]
|
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 133-461.
DOI=10.1016/S0969-2126(99)80125-7; PubMed=10467148 [NCBI, ExPASy, EBI, Israel, Japan]
Hopfner K.-P.,
Lang A.,
Karcher A.,
Sichler K.,
Kopetzki E.,
Brandstetter H.,
Huber R.,
Bode W.,
Engh R.A.;
"Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding.";
Structure 7:989-996(1999).
|
[32]
|
MOLECULAR PATHOLOGY OF HEMB B.
PubMed=2743975 [NCBI, ExPASy, EBI, Israel, Japan]
Green P.M.,
Bentley D.R.,
Mibashan R.S.,
Nilsson I.M.,
Giannelli F.;
"Molecular pathology of haemophilia B.";
EMBO J. 8:1067-1072(1989).
|
[33]
|
REVIEW ON HEMB VARIANTS.
PubMed=1634040 [NCBI, ExPASy, EBI, Israel, Japan]
Sommer S.S.;
"Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.";
FASEB J. 6:2767-2774(1992).
|
[34]
|
REVIEW ON HEMB VARIANTS.
DOI=10.1093/nar/21.13.3075; PubMed=8392713 [NCBI, ExPASy, EBI, Israel, Japan]
Giannelli F.,
Green P.M.,
High K.A.,
Sommer S.,
Poon M.-C.,
Ludwig M.,
Schwaab R.,
Reitsma P.H.,
Goossens M.,
Yoshioka A.,
Brownlee G.G.;
"Haemophilia B: database of point mutations and short additions and deletions -- fourth edition, 1993.";
Nucleic Acids Res. 21:3075-3087(1993).
|
[35]
|
VARIANT HEMB HIS-191.
PubMed=6603618 [NCBI, ExPASy, EBI, Israel, Japan]
Noyes C.M.,
Griffith M.J.,
Roberts H.R.,
Lundblad R.L.;
"Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.";
Proc. Natl. Acad. Sci. U.S.A. 80:4200-4202(1983).
|
[36]
|
VARIANT HEMB GLN-43.
DOI=10.1016/0092-8674(86)90319-3; PubMed=3009023 [NCBI, ExPASy, EBI, Israel, Japan]
Bentley A.K.,
Rees D.J.,
Rizza C.,
Brownlee G.G.;
"Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.";
Cell 45:343-348(1986).
|
[37]
|
VARIANT HEMB GLY-93.
PubMed=3790720 [NCBI, ExPASy, EBI, Israel, Japan]
Davis L.M.,
McGraw R.A.,
Ware J.L.,
Roberts H.R.,
Stafford D.W.;
"Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.";
Blood 69:140-143(1987).
|
[38]
|
VARIANT HEMB THR-443.
PubMed=3401602 [NCBI, ExPASy, EBI, Israel, Japan]
Ware J.,
Davis L.,
Frazier D.,
Bajaj S.P.,
Stafford D.W.;
"Genetic defect responsible for the dysfunctional protein: factor IX (Long Beach).";
Blood 72:820-822(1988).
|
[39]
|
VARIANT HEMB VAL-436.
PubMed=3243764 [NCBI, ExPASy, EBI, Israel, Japan]
Sugimoto M.,
Miyata T.,
Kawabata S.,
Yoshioka A.,
Fukui H.,
Takahashi H.,
Iwanaga S.;
"Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain.";
J. Biochem. 104:878-880(1988).
|
[40]
|
VARIANT HEMB GLN-226.
PubMed=2713493 [NCBI, ExPASy, EBI, Israel, Japan]
Monroe D.M.,
McCord D.M.,
Huang M.N.,
High K.A.,
Lundblad R.L.,
Kasper C.K.,
Roberts H.R.;
"Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo.";
Blood 73:1540-1544(1989).
|
[41]
|
VARIANT HEMB ARG-442.
DOI=10.1016/0888-7543(89)90330-3; PubMed=2714791 [NCBI, ExPASy, EBI, Israel, Japan]
Attree O.,
Vidaud D.,
Vidaud M.,
Amselem S.,
Lavergne J.-M.,
Goossens M.;
"Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.";
Genomics 4:266-272(1989).
|
[42]
|
VARIANTS HEMB GLN-75; ASP-79; TRP-268; THR-279; SER-306; MET-342; ARG-357 AND ARG-453, AND VARIANT PHE-7.
PubMed=2773937 [NCBI, ExPASy, EBI, Israel, Japan]
Koeberl D.D.,
Bottema C.D.,
Buerstedde J.-M.,
Sommer S.S.;
"Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.";
Am. J. Hum. Genet. 45:448-457(1989).
|
[43]
|
VARIANT HEMB CYS-191.
PubMed=2775660 [NCBI, ExPASy, EBI, Israel, Japan]
Liddell M.B.,
Peake I.R.,
Taylor S.A.,
Lillicrap D.P.,
Giddings J.C.,
Bloom A.L.;
"Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.";
Br. J. Haematol. 72:556-560(1989).
|
[44]
|
VARIANT HEMB PHE-228.
PubMed=2753873 [NCBI, ExPASy, EBI, Israel, Japan]
Sakai T.,
Yoshioka A.,
Yamamoto K.,
Niinomi K.,
Fujimura Y.,
Fukui H.,
Miyata T.,
Iwanaga S.;
"Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine.";
J. Biochem. 105:756-759(1989).
|
[45]
|
VARIANT HEMB GLN-43.
PubMed=2738071 [NCBI, ExPASy, EBI, Israel, Japan]
Ware J.,
Diuguid D.L.,
Liebman H.A.,
Rabiet M.J.,
Kasper C.K.,
Furie B.C.,
Furie B.,
Stafford D.W.;
"Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties.";
J. Biol. Chem. 264:11401-11406(1989).
|
[46]
|
VARIANTS HEMB LYS-73; SER-106 AND GLN-294.
PubMed=2472424 [NCBI, ExPASy, EBI, Israel, Japan]
Chen S.H.,
Thompson A.R.,
Zhang M.,
Scott C.R.;
"Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.";
J. Clin. Invest. 84:113-118(1989).
|
[47]
|
VARIANT HEMB VAL-73.
PubMed=2339358 [NCBI, ExPASy, EBI, Israel, Japan]
Wang N.S.,
Zhang M.,
Thompson A.R.,
Chen S.H.;
"Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B.";
Thromb. Haemost. 63:24-26(1990).
|
[48]
|
VARIANT HEMB LEU-228.
PubMed=2372509 [NCBI, ExPASy, EBI, Israel, Japan]
Taylor S.A.,
Liddell M.B.,
Peake I.R.,
Bloom A.L.,
Lillicrap D.P.;
"A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.";
Br. J. Haematol. 75:217-221(1990).
|
[49]
|
VARIANTS HEMB GLN-226; TRP-226; PHE-227 AND THR-414.
PubMed=2162822 [NCBI, ExPASy, EBI, Israel, Japan]
Bertina R.M.,
van der Linden I.K.,
Mannucci P.M.,
Reinalda-Poot H.H.,
Cupers R.,
Poort S.R.,
Reitsma P.H.;
"Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.";
J. Biol. Chem. 265:10876-10883(1990).
|
[50]
|
VARIANT HEMB GLU-357.
DOI=10.1021/bi00111a014; PubMed=1958666 [NCBI, ExPASy, EBI, Israel, Japan]
Miyata T.,
Sakai T.,
Sugimoto M.,
Naka H.,
Yamamoto K.,
Yoshioka A.,
Fukui H.,
Mitsui K.,
Kamiya K.,
Umeyama H.,
Iwanaga S.;
"Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.";
Biochemistry 30:11286-11291(1991).
|
[51]
|
VARIANT HEMB THR-443.
DOI=10.1093/nar/19.5.1165; PubMed=1902289 [NCBI, ExPASy, EBI, Israel, Japan]
Sarkar G.,
Cassady J.D.,
Pyeritz R.E.,
Gilchrist G.S.,
Sommer S.S.;
"Isoleucine-397 is changed to threonine in two females with hemophilia B.";
Nucleic Acids Res. 19:1165-1165(1991).
|
[52]
|
VARIANTS HEMB VAL-291; GLN-294; HIS-410; GLY-411 AND ILE-411.
PubMed=1346975 [NCBI, ExPASy, EBI, Israel, Japan]
Ludwig M.,
Sabharwal A.K.,
Brackmann H.H.,
Olek K.,
Smith K.J.,
Birktoft J.J.,
Bajaj S.P.;
"Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.";
Blood 79:1225-1232(1992).
|
[53]
|
VARIANT HEMB SER-252.
PubMed=1615485 [NCBI, ExPASy, EBI, Israel, Japan]
Taylor S.A.,
Duffin J.,
Cameron C.,
Teitel J.,
Garvey B.,
Lillicrap D.P.;
"Characterization of the original Christmas disease mutation (cysteine 206-->serine): from clinical recognition to molecular pathogenesis.";
Thromb. Haemost. 67:63-65(1992).
|
[54]
|
VARIANTS HEMB ARG-253; GLN-294; GLN-379; PRO-426 AND ILE-TYR-THR-445 INS.
PubMed=8257988 [NCBI, ExPASy, EBI, Israel, Japan]
David D.,
Rosa H.A.V.,
Pemberton S.,
Diniz M.J.,
Campos M.,
Lavinha J.;
"Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.";
Hum. Mutat. 2:355-361(1993).
|
[55]
|
VARIANTS HEMB HIS-191; GLY-226; THR-279; GLN-379; GLU-419 AND GLN-449.
DOI=10.1007/BF00208285; PubMed=8076946 [NCBI, ExPASy, EBI, Israel, Japan]
Aguilar-Martinez P.,
Romey M.-C.,
Schved J.-F.,
Gris J.-C.,
Demaille J.,
Claustres M.;
"Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.";
Hum. Genet. 94:287-290(1994).
|
[56]
|
VARIANT HEMB GLU-419.
PubMed=8199596 [NCBI, ExPASy, EBI, Israel, Japan]
Aguilar-Martinez P.,
Romey M.-C.,
Gris J.-C.,
Schved J.-F.,
Demaille J.,
Claustres M.;
"A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.";
Hum. Mutat. 3:156-158(1994).
|
[57]
|
VARIANTS HEMB GLN-294 AND ARG-413.
PubMed=7981722 [NCBI, ExPASy, EBI, Israel, Japan]
Caglayan S.H.,
Vielhaber E.,
Guersel T.,
Aktuglu G.,
Sommer S.S.;
"Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411.";
Hum. Mutat. 4:163-165(1994).
|
[58]
|
VARIANTS HEMB.
PubMed=8680410 [NCBI, ExPASy, EBI, Israel, Japan]
Wulff K.,
Schroeder W.,
Wehnert M.,
Herrmann F.H.;
"Twenty-five novel mutations of the factor IX gene in haemophilia B.";
Hum. Mutat. 6:346-348(1995).
|
[59]
|
VARIANT WARFARIN SENSITIVITY THR-37.
PubMed=8833911 [NCBI, ExPASy, EBI, Israel, Japan]
Chu K.,
Wu S.M.,
Stanley T.,
Stafford D.W.,
High K.A.;
"A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism.";
J. Clin. Invest. 98:1619-1625(1996).
|
[60]
|
VARIANTS HEMB LYS-113; MET-342; ARG-413 AND VAL-424.
DOI=10.1002/(SICI)1098-1004(1997)10:1<76::AID-HUMU11>3.3.CO;2-0; PubMed=9222764 [NCBI, ExPASy, EBI, Israel, Japan]
Caglayan S.H.,
Goekmen Y.,
Aktuglu G.,
Guergey A.,
Sommer S.S.;
"Mutations associated with hemophilia B in Turkish patients.";
Hum. Mutat. 10:76-79(1997).
|
[61]
|
VARIANT HEMB PRO-397.
PubMed=9590153 [NCBI, ExPASy, EBI, Israel, Japan]
Chan V.,
Chan V.W.Y.,
Yip B.,
Chim C.S.,
Chan T.K.;
"Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome.";
Am. J. Hematol. 58:72-76(1998).
|
[62]
|
VARIANTS HEMB ARG-119 AND THR-454.
PubMed=9452115 [NCBI, ExPASy, EBI, Israel, Japan]
David D.,
Moreira I.,
Morais S.,
de Deus G.;
"Five novel factor IX mutations in unrelated hemophilia B patients.";
Hum. Mutat. Suppl. 1:S301-S303(1998).
|
[63]
|
VARIANTS HEMB GLN-43; TRP-43; THR-46; SER-106; CYS-115; PHE-155; GLN-379; GLU-387; VAL-432 AND CYS-450.
DOI=10.1002/(SICI)1098-1004(1998)11:5<372::AID-HUMU4>3.3.CO;2-D; PubMed=9600455 [NCBI, ExPASy, EBI, Israel, Japan]
Heit J.A.,
Thorland E.C.,
Ketterling R.P.,
Lind T.J.,
Daniels T.M.,
Zapata R.E.,
Ordonez S.M.,
Kasper C.K.,
Sommer S.S.;
"Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in Amerindians is similar to the putative endogenous germline pattern.";
Hum. Mutat. 11:372-376(1998).
|
[64]
|
VARIANTS HEMB.
PubMed=10698280 [NCBI, ExPASy, EBI, Israel, Japan]
Wulff K.,
Bykowska K.,
Lopaciuk S.,
Herrmann F.H.;
"Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.";
Acta Biochim. Pol. 46:721-726(1999).
|
[65]
|
VARIANTS HEMB.
DOI=10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.3.CO;2-3; PubMed=10094553 [NCBI, ExPASy, EBI, Israel, Japan]
Montejo J.M.,
Magallon M.,
Tizzano E.,
Solera J.;
"Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.";
Hum. Mutat. 13:160-165(1999).
|
[66]
|
VARIANT ALA-194.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
|
[67]
|
ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
|
[68]
|
VARIANTS HEMB CYS-169 AND THR-333.
DOI=10.1046/j.1365-2141.2000.02389.x; PubMed=11122099 [NCBI, ExPASy, EBI, Israel, Japan]
Vidal F.,
Farssac E.,
Altisent C.,
Puig L.,
Gallardo D.;
"Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.";
Br. J. Haematol. 111:549-551(2000).
|
[69]
|
VARIANTS HEMB TYR-28; LEU-43; GLN-43; SER-52; ASP-106; LYS-124; TYR-134; GLN-226; GLY-226; TRP-226; LYS-241; TYR-252; GLN-294; PHE-316; ARG-318; GLY-379; ILE-383; PHE-383; ILE-395; PHE-396; ARG-407 AND GLU-412.
DOI=10.1046/j.1365-2141.2003.04141.x; PubMed=12588353 [NCBI, ExPASy, EBI, Israel, Japan]
Onay U.V.,
Kavakli K.,
Kilinc Y.,
Gurgey A.,
Aktuglu G.,
Kemahli S.,
Ozbek U.,
Caglayan S.H.;
"Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.";
Br. J. Haematol. 120:656-659(2003).
|
[70]
|
VARIANTS HEMB TRP-43; ARG-84; ARG-125; VAL-125; PHE-170; ARG-302; MET-342; LEU-344; LEU-395; THR-414; TYR-435; GLU-442 AND TRP-449.
PubMed=12604421 [NCBI, ExPASy, EBI, Israel, Japan]
Espinos C.,
Casana P.,
Haya S.,
Cid A.R.,
Aznar J.A.;
"Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.";
Haematologica 88:235-236(2003).
|
|
ExPASy Home page