|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
|
7959685 |
1994 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Site-directed mutagenesis of alanine-382 of human antithrombin III.
|
2013320 |
1991 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.
|
1906811 |
1991 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity.
|
3179438 |
1988 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.
|
9845533 |
1998 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Two novel gene mutations in type I antithrombin deficiency.
|
11794707 |
2001 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.
|
10997988 |
2000 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin.
|
7832187 |
1995 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
|
16908819 |
2006 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
|
7994035 |
1994 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.
|
12595305 |
2003 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
|
15164384 |
2004 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Three novel mutations of antithrombin inducing high-molecular-mass compounds.
|
7981186 |
1994 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
|
9031473 |
1997 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
|
8274732 |
1994 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.
|
2365065 |
1990 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.
|
2229057 |
1990 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.
|
6582486 |
1984 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.
|
12894857 |
2003 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
|
23910795 |
2013 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin-III Denver, a reactive site variant.
|
3805013 |
1987 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
|
9157604 |
1997 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.
|
12353073 |
2002 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.
|
3080419 |
1986 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.
|
7878627 |
1994 |