THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene.
|
7803790 |
1995 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.
|
8701404 |
1996 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group.
|
8943854 |
1996 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations in hereditary protein S deficiency.
|
9031443 |
1997 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic and phenotypic variability between families with hereditary protein S deficiency.
|
11858485 |
2002 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
|
18322254 |
2008 |
Reduced protein S activity
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |