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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.
|
8781426 |
1996 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy.
|
7545463 |
1995 |
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 |
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 |
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 |
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 two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis.
|
8977443 |
1996 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.
|
8765219 |
1996 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
CausalMutation
|
disease |
CLINVAR |
Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S.
|
8298131 |
1994 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474.
|
8639833 |
1996 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Protein S deficiency type I: identification of point mutations in 9 of 10 families.
|
7579449 |
1995 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
|
7482398 |
1995 |
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 |
CausalMutation
|
disease |
CLINVAR |
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation.
|
26251307 |
2015 |