Add to ORKGWe report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic variants of the same genetic disease. Direct sequencing analysis of the PROS1 gene was performed to establish the genotype. The ratio of protein C antigen and total PS antigen levels (protein C/S ratio) was used to classify subjects at risk of venous thromboembolism. All PS deficient subjects had increased protein C/S ratios as well as a novel PROS4 c.1113T -> GG frameshift mutation
The Protein S Italian Team (PROSIT) enrolled 79 protein S (PS) deficient families and found 38 PROS1...
Abstract Protein S deficiency is an autosomal dominant disorder that results from mutations in the p...
Protein S is a vitamin K dependent protein whose inherited deficiency is a well recognized risk fact...
We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic...
Hereditary protein S (PS) deficiency predisposes to venous thrombosis. Previously, we demonstrated a...
Hereditary protein S deficiency is a risk factor for developing recurrent venous thromboembolic dise...
Protein S (PS) deficiency is a risk factor for venous thromboembolism (VTE) and can be caused by var...
Protein S deficiency is a known risk factor for thrombosis. The coexistence of phenotypic type I (re...
A dimorphism in PROS1 gene (c.A2001G, p.Pro667Pro) has been associated with significantly reduced le...
Background Protein S, which circulates in plasma in both free and bound forms, is an anticoagulant p...
International audienceOnly a few mutations associated with qualitative protein S deficiency have alr...
Abstract. Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk facto...
By single strand conformational polymorphism, nucleotide sequencing and enzyme restriction, we analy...
The molecular basis for a hereditary type I protein S (PSI deficiency was investigated. DNA sequence...
Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombo...
The Protein S Italian Team (PROSIT) enrolled 79 protein S (PS) deficient families and found 38 PROS1...
Abstract Protein S deficiency is an autosomal dominant disorder that results from mutations in the p...
Protein S is a vitamin K dependent protein whose inherited deficiency is a well recognized risk fact...
We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic...
Hereditary protein S (PS) deficiency predisposes to venous thrombosis. Previously, we demonstrated a...
Hereditary protein S deficiency is a risk factor for developing recurrent venous thromboembolic dise...
Protein S (PS) deficiency is a risk factor for venous thromboembolism (VTE) and can be caused by var...
Protein S deficiency is a known risk factor for thrombosis. The coexistence of phenotypic type I (re...
A dimorphism in PROS1 gene (c.A2001G, p.Pro667Pro) has been associated with significantly reduced le...
Background Protein S, which circulates in plasma in both free and bound forms, is an anticoagulant p...
International audienceOnly a few mutations associated with qualitative protein S deficiency have alr...
Abstract. Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk facto...
By single strand conformational polymorphism, nucleotide sequencing and enzyme restriction, we analy...
The molecular basis for a hereditary type I protein S (PSI deficiency was investigated. DNA sequence...
Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombo...
The Protein S Italian Team (PROSIT) enrolled 79 protein S (PS) deficient families and found 38 PROS1...
Abstract Protein S deficiency is an autosomal dominant disorder that results from mutations in the p...
Protein S is a vitamin K dependent protein whose inherited deficiency is a well recognized risk fact...