|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency.
|
28300866 |
2017 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
|
26748602 |
2016 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
|
24162787 |
2014 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
|
23910795 |
2013 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.
|
21325262 |
2011 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
|
16908819 |
2006 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
|
15164384 |
2004 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
|
11713457 |
2001 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The molecular basis of antithrombin deficiency in Belgian and Dutch families.
|
9759613 |
1998 |
|
Antithrombin III Deficiency
|
|
0.800 |
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 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
|
9157604 |
1997 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
|
8274732 |
1994 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
|
7994035 |
1994 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)
|
7989582 |
1994 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
|
7959685 |
1994 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.
|
8443391 |
1993 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.
|
1555650 |
1992 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.
|
1547341 |
1992 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Site-directed mutagenesis of alanine-382 of human antithrombin III.
|
2013320 |
1991 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.
|
2365065 |
1990 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
"CpG dinucleotides are ""hotspots"" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction."
|
2615648 |
1989 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.
|
2781509 |
1989 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.
|
3191114 |
1988 |
|
Antithrombin III Deficiency
|
|
0.800 |
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 |
|
Antithrombin III Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.
|
3080419 |
1986 |