SERPINC1
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study.
|
24684277 |
2014 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
|
23910795 |
2013 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
|
16908819 |
2006 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
|
15164384 |
2004 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.
|
12595305 |
2003 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.
|
12894857 |
2003 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.
|
12353073 |
2002 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel gene mutations in type I antithrombin deficiency.
|
11794707 |
2001 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
|
11713457 |
2001 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.
|
10997988 |
2000 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.
|
9845533 |
1998 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of antithrombin deficiency in Belgian and Dutch families.
|
9759613 |
1998 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
|
9157604 |
1997 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin.
|
7832187 |
1995 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
|
7959685 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
|
7994035 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of antithrombin inducing high-molecular-mass compounds.
|
7981186 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
|
8274732 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.
|
7878627 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)
|
7989582 |
1994 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.
|
8443391 |
1993 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection.
|
8486379 |
1993 |
SERPINC1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.
|
1547341 |
1992 |