|
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 |
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 |
Antithrombin-III Denver, a reactive site variant.
|
3805013 |
1987 |
|
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 |
Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.
|
3191114 |
1988 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
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.
|
3162733 |
1988 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.
|
2781509 |
1989 |
|
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 |
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-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.
|
1547341 |
1992 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.
|
1555650 |
1992 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.
|
8443391 |
1993 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection.
|
8486379 |
1993 |
|
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 |
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
|
7994035 |
1994 |
|
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-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 |
Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.
|
7878627 |
1994 |
|
SERPINC1
|
Antithrombin III Deficiency
|
1.000 |
GeneticVariation |
UNIPROT |
Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)
|
7989582 |
1994 |
|
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 |
Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin.
|
7734359 |
1995 |
|
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 Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
|
9157604 |
1997 |