[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1093/nar/10.24.8113; PubMed=6298709 [NCBI, ExPASy, EBI, Israel, Japan]
Bock S.C.,
Wion K.L.,
Vehar G.A.,
Lawn R.M.;
"Cloning and expression of the cDNA for human antithrombin III.";
Nucleic Acids Res. 10:8113-8125(1982).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=6572945 [NCBI, ExPASy, EBI, Israel, Japan]
Chandra T.,
Stackhouse R.,
Kidd V.J.,
Woo S.L.C.;
"Isolation and sequence characterization of a cDNA clone of human antithrombin III.";
Proc. Natl. Acad. Sci. U.S.A. 80:1845-1848(1983).
|
[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1021/bi00067a008; PubMed=8476848 [NCBI, ExPASy, EBI, Israel, Japan]
Olds R.J.,
Lane D.A.,
Chowdhury V.,
de Stefano V.,
Leone G.,
Thein S.L.;
"Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.";
Biochemistry 32:4216-4224(1993).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Fetal liver;
Zhang C.,
Yu Y.,
Zhang S.,
Wei H.,
Bi J.,
Zhou G.,
Dong C.,
Zai Y.,
Xu W.,
Gao F.,
Liu M.,
He F.;
"Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver.";
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
|
[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-30 AND ALA-147.
SeattleSNPs program for genomic applications;
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
|
[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 42-464.
PubMed=6305982 [NCBI, ExPASy, EBI, Israel, Japan]
Prochownik E.V.,
Markham A.F.,
Orkin S.H.;
"Isolation of a cDNA clone for human antithrombin III.";
J. Biol. Chem. 258:8389-8394(1983).
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[7]
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PROTEIN SEQUENCE OF 33-464, GLYCOSYLATION AT ASN-128; ASN-167; ASN-187 AND ASN-224, AND DISULFIDE BONDS.
Petersen T.E.,
Dudek-Wojciechowska G.,
Sottrup-Jensen L.,
Magnusson S.;
"Primary structure of antithrombin-III (heparin cofactor). Partial homology between alpha-1-antitrypsin and antithrombin-III.";
(In) Collen D., Wiman B., Verstraete M. (eds.); The physiological inhibitors of blood coagulation and fibrinolysis, pp.43-54, Elsevier, Amsterdam (1979).
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[8]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 137-208, AND VARIANT AT-III DEFICIENCY LEU-439.
DOI=10.1021/bi00416a052; PubMed=3191114 [NCBI, ExPASy, EBI, Israel, Japan]
Bock S.C.,
Marrinan J.A.,
Radziejewska E.;
"Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.";
Biochemistry 27:6171-6178(1988).
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[9]
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ACTIVE SITE.
DOI=10.1016/0014-5793(81)80255-4; PubMed=7238875 [NCBI, ExPASy, EBI, Israel, Japan]
Bjoerk I.,
Danielsson A.,
Fenton J.W. II,
Joernvall H.;
"The site in human antithrombin for functional proteolytic cleavage by human thrombin.";
FEBS Lett. 126:257-260(1981).
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[10]
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HEPARIN-BINDING SITE.
PubMed=6693405 [NCBI, ExPASy, EBI, Israel, Japan]
Blackburn M.N.,
Smith R.L.,
Carson J.,
Sibley C.C.;
"The heparin-binding site of antithrombin III. Identification of a critical tryptophan in the amino acid sequence.";
J. Biol. Chem. 259:939-941(1984).
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[11]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187, AND MASS SPECTROMETRY.
TISSUE=Bile;
DOI=10.1074/mcp.M400015-MCP200; PubMed=15084671 [NCBI, ExPASy, EBI, Israel, Japan]
Kristiansen T.Z.,
Bunkenborg J.,
Gronborg M.,
Molina H.,
Thuluvath P.J.,
Argani P.,
Goggins M.G.,
Maitra A.,
Pandey A.;
"A proteomic analysis of human bile.";
Mol. Cell. Proteomics 3:715-728(2004).
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[12]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-128 AND ASN-187, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1002/pmic.200300556; PubMed=14760718 [NCBI, ExPASy, EBI, Israel, Japan]
Bunkenborg J.,
Pilch B.J.,
Podtelejnikov A.V.,
Wisniewski J.R.;
"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.";
Proteomics 4:454-465(2004).
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[13]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-128; ASN-187 AND ASN-224, 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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[14]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-224, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1074/mcp.M500324-MCP200; PubMed=16263699 [NCBI, ExPASy, EBI, Israel, Japan]
Lewandrowski U.,
Moebius J.,
Walter U.,
Sickmann A.;
"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.";
Mol. Cell. Proteomics 5:226-233(2006).
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[15]
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X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS).
DOI=10.1016/S0969-2126(00)00028-9; PubMed=8087553 [NCBI, ExPASy, EBI, Israel, Japan]
Carrell R.W.,
Stein P.E.,
Fermi G.,
Wardell M.R.;
"Biological implications of a 3 A structure of dimeric antithrombin.";
Structure 2:257-270(1994).
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[16]
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X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS).
DOI=10.1038/nsb0194-48; PubMed=7656006 [NCBI, ExPASy, EBI, Israel, Japan]
Schreuder H.A.,
de Boer B.,
Dijkema R.,
Mulders J.,
Theunissen H.J.M.,
Grootenhuis P.D.J.,
Hol W.G.J.;
"The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions.";
Nat. Struct. Biol. 1:48-54(1994).
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[17]
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X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS).
DOI=10.1006/jmbi.1996.0798; PubMed=9067613 [NCBI, ExPASy, EBI, Israel, Japan]
Skinner R.,
Abrahams J.P.,
Whisstock J.C.,
Lesk A.M.,
Carrel R.W.,
Wardell M.R.;
"The 2.6 A structure of antithrombin indicates a conformational change at the heparin binding site.";
J. Mol. Biol. 266:601-609(1997).
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[18]
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X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS).
DOI=10.1006/jmbi.1998.2083; PubMed=9761669 [NCBI, ExPASy, EBI, Israel, Japan]
Skinner R.,
Chang W.-S.W.,
Jin L.,
Pei X.Y.,
Huntington J.A.,
Abrahams J.P.,
Carrell R.W.,
Lomas D.A.;
"Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin.";
J. Mol. Biol. 283:9-14(1998).
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[19]
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REVIEW.
DOI=10.1016/0300-9084(90)90123-X; PubMed=2126464 [NCBI, ExPASy, EBI, Israel, Japan]
Mourey L.,
Samama J.-P.,
Delarue M.,
Choay J.,
Lormeau J.C.,
Petitou M.,
Moras D.;
"Antithrombin III: structural and functional aspects.";
Biochimie 72:599-608(1990).
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[20]
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REVIEW ON VARIANTS.
PubMed=8236149 [NCBI, ExPASy, EBI, Israel, Japan]
Lane D.A.,
Olds R.J.,
Boisclair M.,
Chowdhury V.,
Thein S.L.,
Cooper D.N.,
Blajchman M.,
Perry D.,
Emmerich J.,
Aiach M.;
"Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.";
Thromb. Haemost. 70:361-369(1993).
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[21]
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REVIEW ON VARIANTS.
DOI=10.1038/nsb0295-96; PubMed=7749926 [NCBI, ExPASy, EBI, Israel, Japan]
Stein P.E.,
Carrell R.W.;
"What do dysfunctional serpins tell us about molecular mobility and disease?";
Nat. Struct. Biol. 2:96-113(1995).
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[22]
|
REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.3.CO;2-A; PubMed=8664906 [NCBI, ExPASy, EBI, Israel, Japan]
Perry D.J.,
Carrell R.W.;
"Molecular genetics of human antithrombin deficiency.";
Hum. Mutat. 7:7-22(1996).
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[23]
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VARIANTS AT-III DEFICIENCY SER-17; PRO-23; ASN-39; CYS-56; ASN-87 DEL; LEU-73; CYS-79; HIS-79; SER-79; CYS-89; LEU-90; CYS-95; SER-95; PRO-98; THR-112; PHE-131; VAL-131; LYS-133; PHE-138-139-LYS DEL; PRO-148; PRO-150; PRO-158; TYR-160; CYS-198; HIS-198; ILE-218 DEL; ASP-219; LYS-219; GLN-161; ARG-257; LYS-269; ILE-283; ASN-316; ASP-424; ARG-412; THR-414; PRO-416; SER-416; VAL-419; CYS-425; HIS-425; PRO-425; LEU-426; LYS-334; CYS-434; LEU-434; SER-434; THR-436; LYS-437; GLY-438; MET-438; THR-439; THR-453; ARG-456; ASP-459; PHE-462; LEU-439; THR-457 AND LEU-461, AND VARIANTS GLU-30; THR-52 AND CYS-190.
PubMed=9031473 [NCBI, ExPASy, EBI, Israel, Japan]
The plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostasis;
Lane D.A.,
Bayston T.,
Olds R.J.,
Fitches A.C.,
Cooper D.N.,
Millar D.S.,
Jochmans K.,
Perry D.J.,
Okajima K.,
Thein S.L.,
Emmerich J.;
"Antithrombin mutation database: 2nd (1997) update.";
Thromb. Haemost. 77:197-211(1997).
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[24]
|
VARIANT AT-III DEFICIENCY CYS-79.
PubMed=6582486 [NCBI, ExPASy, EBI, Israel, Japan]
Koide T.,
Odani S.,
Takahashi K.,
Ono T.,
Sakuragawa N.;
"Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.";
Proc. Natl. Acad. Sci. U.S.A. 81:289-293(1984).
|
[25]
|
VARIANT AT-III DEFICIENCY LEU-73.
PubMed=3080419 [NCBI, ExPASy, EBI, Israel, Japan]
Chang J.Y.,
Tran T.H.;
"Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.";
J. Biol. Chem. 261:1174-1176(1986).
|
[26]
|
VARIANT AT-III DEFICIENCY LEU-426.
PubMed=3805013 [NCBI, ExPASy, EBI, Israel, Japan]
Stephens A.W.,
Thalley B.S.,
Hirs C.H.W.;
"Antithrombin-III Denver, a reactive site variant.";
J. Biol. Chem. 262:1044-1048(1987).
|
[27]
|
VARIANT AT-III DEFICIENCY THR-414.
PubMed=3179438 [NCBI, ExPASy, EBI, Israel, Japan]
Devrak-Kizuk R.,
Chui D.H.K.,
Prochownik E.V.,
Carter C.J.,
Ofosu F.A.,
Blajchman M.A.;
"Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity.";
Blood 72:1518-1523(1988).
|
[28]
|
VARIANTS AT-III DEFICIENCY CYS-425 AND HIS-425.
PubMed=3162733 [NCBI, ExPASy, EBI, Israel, Japan]
Erdjument H.,
Laned D.A.,
Panico M.,
di Marzo V.,
Morris H.R.;
"Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.";
J. Biol. Chem. 263:5589-5593(1988).
|
[29]
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VARIANT AT-III DEFICIENCY HIS-425.
DOI=10.1016/0049-3848(89)90127-8; PubMed=2781509 [NCBI, ExPASy, EBI, Israel, Japan]
Erdjument H.,
Lane D.A.,
Panico M.,
di Marzo V.,
Morris H.R.,
Bauer K.,
Rosenberg R.D.;
"Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.";
Thromb. Res. 54:613-619(1989).
|
[30]
|
VARIANT AT-III DEFICIENCY CYS-56.
DOI=10.1016/0014-5793(90)81530-2; PubMed=2365065 [NCBI, ExPASy, EBI, Israel, Japan]
Borg J.Y.,
Brennan S.O.,
Carrell R.W.,
George P.,
Perry D.J.,
Shaw J.;
"Antithrombin Rouen-IV 24 Arg-->Cys. The amino-terminal contribution to heparin binding.";
FEBS Lett. 266:163-166(1990).
|
[31]
|
VARIANT GLU-30.
DOI=10.1016/0014-5793(90)81057-U; PubMed=1977621 [NCBI, ExPASy, EBI, Israel, Japan]
Daly M.,
Bruce D.,
Perry D.J.,
Price J.,
Harper P.L.,
O'Meara A.,
Carrell R.W.;
"Antithrombin Dublin (-3 Val-->Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.";
FEBS Lett. 273:87-90(1990).
|
[32]
|
VARIANT AT-III DEFICIENCY GLN-161.
PubMed=2229057 [NCBI, ExPASy, EBI, Israel, Japan]
Gandrille S.,
Aiach M.,
Lane D.A.,
Vidaud D.,
Molho-Sabatier P.,
Caso R.,
de Moerloose P.,
Fiessinger J.-N.,
Clauser E.;
"Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.";
J. Biol. Chem. 265:18997-19001(1990).
|
[33]
|
CHARACTERIZATION OF VARIANT AT-III DEFICIENCY THR-414, AND MUTAGENESIS OF ALA-414.
DOI=10.1016/0014-5793(91)80305-M; PubMed=2013320 [NCBI, ExPASy, EBI, Israel, Japan]
Austin R.C.,
Rachubinski R.A.,
Blachjman M.A.;
"Site-directed mutagenesis of alanine-382 of human antithrombin III.";
FEBS Lett. 280:254-258(1991).
|
[34]
|
VARIANT AT-III DEFICIENCY SER-416.
DOI=10.1016/0014-5793(91)80809-H; PubMed=1906811 [NCBI, ExPASy, EBI, Israel, Japan]
Perry D.J.,
Daly M.,
Harper P.L.,
Tait R.C.,
Price J.,
Walker I.D.,
Carrell R.W.;
"Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.";
FEBS Lett. 285:248-250(1991).
|
[35]
|
VARIANT AT-III DEFICIENCY PHE-131.
DOI=10.1016/0014-5793(92)80854-A; PubMed=1555650 [NCBI, ExPASy, EBI, Israel, Japan]
Olds R.J.,
Lane D.A.,
Boisclair M.,
Sas G.,
Bock S.C.,
Thein S.L.;
"Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.";
FEBS Lett. 300:241-246(1992).
|
[36]
|
VARIANT AT-III DEFICIENCY ASP-424.
PubMed=1547341 [NCBI, ExPASy, EBI, Israel, Japan]
Blajchman M.A.,
Fernandez-Rachubinski F.,
Sheffield W.P.,
Austin R.C.,
Schulman S.;
"Antithrombin-III Stockholm: a codon 392 (Gly-->Asp) mutation with normal heparin binding and impaired serine protease reactivity.";
Blood 79:1428-1434(1992).
|
[37]
|
VARIANT AT-III DEFICIENCY PRO-148.
PubMed=8443391 [NCBI, ExPASy, EBI, Israel, Japan]
Okajima K.,
Abe H.,
Maeda S.,
Motomura M.,
Tsujihata M.,
Nagataki S.,
Okabe H.,
Takatsuki K.;
"Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.";
Blood 81:1300-1305(1993).
|
[38]
|
VARIANT AT-III DEFICIENCY 138-PHE-LYS-139 DEL.
DOI=10.1006/geno.1993.1184; PubMed=8486379 [NCBI, ExPASy, EBI, Israel, Japan]
Olds R.J.,
Lane D.A.,
Beresford C.H.,
Abildgaard U.,
Hughes P.M.,
Thein S.L.;
"A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection.";
Genomics 16:298-299(1993).
|
[39]
|
VARIANTS AT-III DEFICIENCY HIS-79 AND TYR-160.
PubMed=7981186 [NCBI, ExPASy, EBI, Israel, Japan]
Emmerich J.,
Vidaud D.,
Alhenc-Gelas M.,
Chadeuf G.,
Gouault-Heilmann M.,
Aillaud M.-F.,
Aiach M.;
"Three novel mutations of antithrombin inducing high-molecular-mass compounds.";
Arterioscler. Thromb. 14:1958-1965(1994).
|
[40]
|
VARIANTS AT-III DEFICIENCY THR-112; TYR-152 AND ILE-283, AND VARIANT CYS-190.
DOI=10.1007/BF00211016; PubMed=7959685 [NCBI, ExPASy, EBI, Israel, Japan]
Millar D.S.,
Wacey A.I.,
Ribando J.,
Melissari E.,
Laursen B.,
Woods P.,
Kakkar V.V.,
Cooper D.N.;
"Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.";
Hum. Genet. 94:509-512(1994).
|
[41]
|
VARIANT AT-III DEFICIENCY ARG-456.
PubMed=8274732 [NCBI, ExPASy, EBI, Israel, Japan]
Jochmans K.,
Lissens W.,
Vervoort R.,
Peeters S.,
de Waelwe M.,
Liebaers I.;
"Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.";
Blood 83:146-151(1994).
|
[42]
|
VARIANTS AT-III DEFICIENCY SER-95; THR-453 AND PHE-462.
PubMed=7994035 [NCBI, ExPASy, EBI, Israel, Japan]
van Boven H.H.,
Olds R.J.,
Thein S.L.,
Reitsma P.H.,
Lane D.A.,
Briet E.,
Vandenbroucke J.P.,
Rosendaal F.R.;
"Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.";
Blood 84:4209-4213(1994).
|
[43]
|
VARIANT AT-III DEFICIENCY ASP-219.
PubMed=7989582 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce D.,
Perry D.J.,
Borg J.-Y.,
Carrell R.W.,
Wardell M.R.;
"Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp).";
J. Clin. Invest. 94:2265-2274(1994).
|
[44]
|
VARIANTS AT-III DEFICIENCY VAL-131 AND PRO-150.
Chowdhury V.,
Olds R.J.,
Lane D.A.,
Mille B.,
Pabinger I.,
Thein S.L.;
"Two novel antithrombin variants (L99V and Q118P) which alter the heparin binding domain.";
Nouv. Rev. Fr. Hematol. 86:268-268(1994).
|
[45]
|
VARIANT AT-III DEFICIENCY 273-LYS--LYS-307 DEL.
PubMed=7878627 [NCBI, ExPASy, EBI, Israel, Japan]
Emmerich J.,
Chadeuf G.,
Alhenc-Gelas M.,
Gouault-Heilman M.,
Toulon P.,
Fiessinger J.-N.,
Aiach M.;
"Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.";
Thromb. Haemost. 72:534-539(1994).
|
[46]
|
VARIANT AT-III DEFICIENCY HIS-425.
PubMed=7832187 [NCBI, ExPASy, EBI, Israel, Japan]
Okajima K.,
Abe H.,
Wagatsuma M.,
Okabe H.,
Takatsuki K.;
"Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin.";
Am. J. Hematol. 48:12-18(1995).
|
[47]
|
VARIANT AT-III DEFICIENCY ARG-127.
PubMed=9157604 [NCBI, ExPASy, EBI, Israel, Japan]
Ozawa T.,
Takikawa Y.,
Niiya K.,
Fujiwara T.,
Suzuki K.,
Sato S.,
Sakuragawa N.;
"Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.";
Thromb. Haemost. 77:403-403(1997).
|
[48]
|
VARIANT AT-III DEFICIENCY PRO-23.
PubMed=9845533 [NCBI, ExPASy, EBI, Israel, Japan]
Fitches A.C.,
Appleby R.,
Lane D.A.,
De Stefano V.,
Leone G.,
Olds R.J.;
"Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.";
Blood 92:4671-4676(1998).
|
[49]
|
VARIANTS AT-III DEFICIENCY ARG-32; LEU-73; CYS-79; HIS-198; ARG-257 AND ARG-412.
PubMed=9759613 [NCBI, ExPASy, EBI, Israel, Japan]
Jochmans K.,
Lissens W.,
Seneca S.,
Capel P.,
Chatelain B.,
Meeus P.,
Osselaer J.C.,
Peerlinck K.,
Seghers J.,
Slacmeulder M.,
Stibbe J.,
van de Loo J.,
Vermylen J.,
Liebaers I.,
De Waele M.;
"The molecular basis of antithrombin deficiency in Belgian and Dutch families.";
Thromb. Haemost. 80:376-381(1998).
|
[50]
|
VARIANT THR-167.
PubMed=10361121 [NCBI, ExPASy, EBI, Israel, Japan]
Bayston T.A.,
Tripodi A.,
Mannucci P.M.,
Thompson E.,
Ireland H.,
Fitches A.C.,
Hananeia L.,
Olds R.J.,
Lane D.A.;
"Familial overexpression of beta-antithrombin caused by an Asn135-to-Thr substitution.";
Blood 93:4242-4247(1999).
|
[51]
|
VARIANTS AT-III DEFICIENCY PHE-214; PRO-223; ILE-243; THR-251; VAL-283 AND PRO-397.
DOI=10.1046/j.1365-2141.2000.02245.x; PubMed=10997988 [NCBI, ExPASy, EBI, Israel, Japan]
Picard V.,
Bura A.,
Emmerich J.,
Alhenc-Gelas M.,
Biron C.,
Houbouyan-Reveillard L.L.,
Molho P.,
Labatide-Alanore A.,
Sie P.,
Toulon P.,
Verdy E.,
Aiach M.;
"Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.";
Br. J. Haematol. 110:731-734(2000).
|
[52]
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VARIANT AT-III DEFICIENCY 152-HIS--PHE-154 DEL.
PubMed=11794707 [NCBI, ExPASy, EBI, Israel, Japan]
Niiya K.,
Kiguchi T.,
Dansako H.,
Fujimura K.,
Fujimoto T.,
Iijima K.,
Tanimoto M.,
Harada M.;
"Two novel gene mutations in type I antithrombin deficiency.";
Int. J. Hematol. 74:469-472(2001).
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[53]
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VARIANT AT-III DEFICIENCY PRO-223.
DOI=10.1067/mpd.2001.118191; PubMed=11713457 [NCBI, ExPASy, EBI, Israel, Japan]
Baud O.,
Picard V.,
Durand P.,
Duchemin J.,
Proulle V.,
Alhenc-Gelas M.,
Devictor D.,
Dreyfus M.;
"Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.";
J. Pediatr. 139:741-743(2001).
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[54]
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VARIANT AT-III DEFICIENCY GLU-146.
DOI=10.1267/THRO88030436; PubMed=12353073 [NCBI, ExPASy, EBI, Israel, Japan]
Mushunje A.,
Zhou A.,
Huntington J.A.,
Conard J.,
Carrell R.W.;
"Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.";
Thromb. Haemost. 88:436-443(2002).
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[55]
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VARIANT AT-III DEFICIENCY LEU-261.
DOI=10.1182/blood-2002-11-3391; PubMed=12595305 [NCBI, ExPASy, EBI, Israel, Japan]
Picard V.,
Dautzenberg M.-D.,
Villoutreix B.O.,
Orliaguet G.,
Alhenc-Gelas M.,
Aiach M.;
"Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.";
Blood 102:919-925(2003).
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[56]
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VARIANTS AT-III DEFICIENCY LYS-121; HIS-178; CYS-425; HIS-425 AND PRO-441.
PubMed=12894857 [NCBI, ExPASy, EBI, Israel, Japan]
Nagaizumi K.,
Inaba H.,
Amano K.,
Suzuki M.,
Arai M.,
Fukutake K.;
"Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.";
Int. J. Hematol. 78:79-83(2003).
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[57]
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VARIANTS AT-III DEFICIENCY LEU-179; CYS-425 AND LEU-426.
DOI=10.1002/ajh.20067; PubMed=15164384 [NCBI, ExPASy, EBI, Israel, Japan]
David D.,
Ribeiro S.,
Ferrao L.,
Gago T.,
Crespo F.;
"Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.";
Am. J. Hematol. 76:163-171(2004).
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[58]
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VARIANT AT-III DEFICIENCY HIS-398.
DOI=10.1001/archopht.124.8.1165; PubMed=16908819 [NCBI, ExPASy, EBI, Israel, Japan]
Kuhli C.,
Jochmans K.,
Scharrer I.,
Luechtenberg M.,
Hattenbach L.-O.;
"Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.";
Arch. Ophthalmol. 124:1165-1169(2006).
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