Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations

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Protein C deficiency in a family with thromboembolism and identified gene mutations.

Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169T...

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Lacunar infarction in child with Protein S deficiency: a case report

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Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism

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Few data are available on the risk of recurrent venous thromboembolism (VTE) associated with the rare inherited deficiencies of natural anticoagulants. We studied 602 patients with previous VTE: the incidence of first recurrence in the absence of anticoagulation was retrospectively estimated in 64 patients with deficiency of antithrombin (AT, n=14), protein C (PC, n=28), or protein S (PS, n=22)...

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ژورنال

عنوان ژورنال: Internal Medicine

سال: 2003

ISSN: 0918-2918,1349-7235

DOI: 10.2169/internalmedicine.42.268