THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
|
26985940 |
2016 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation.
|
26251307 |
2015 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mesenteric venous thrombosis in a child with type 2 protein S deficiency.
|
21285903 |
2011 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum.
|
21811774 |
2011 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The association of protein S Tokushima-K196E with a risk of deep vein thrombosis.
|
20811787 |
2010 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
|
18954896 |
2009 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.
|
19826897 |
2009 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
|
18322254 |
2008 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients.
|
16461766 |
2006 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers.
|
16961608 |
2006 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
|
15712227 |
2005 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
|
15238143 |
2004 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations.
|
12632031 |
2003 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency.
|
12351389 |
2002 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and phenotypic variability between families with hereditary protein S deficiency.
|
11858485 |
2002 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S.
|
11927129 |
2002 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects.
|
11372770 |
2001 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
|
11776305 |
2001 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
|
10790208 |
2000 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.
|
10706858 |
2000 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
|
10613647 |
1999 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
|
10447256 |
1999 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three novel mutations in hereditary protein S deficiency.
|
9031443 |
1997 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
|
9241758 |
1997 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.
|
8781426 |
1996 |