THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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
|
0.600 |
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 |
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 |
Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum.
|
21811774 |
2011 |
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 |
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 |
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
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.
|
8781426 |
1996 |