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Article

Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.

Thrombosis and haemostasis - 1 Mar 1996

van Boven H H, Reitsma P H, Rosendaal F R, Bayston T A, Chowdhury V, Bauer K A, Scharrer I, Conard J, Lane D A

Abstract excerpt

We investigated the presence of the gene mutation of factor V, FV R506Q or factor V Leiden, responsible for activated protein C resistance, in DNA samples of 127 probands and 188 relatives from 128 families with antithrombin deficiency. The factor V mutation was identified in 18 families. Nine families were available to assess the mode of inheritance and the clinical relevance of combined defects. The factor V...

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PMID: 8701400

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