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. 1994 Jun 18;343(8912):1535-6.
doi: 10.1016/s0140-6736(94)92939-4.

Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

J Voorberg  1 , J Roelse, R Koopman, H Büller, F Berends, J W ten Cate, K Mertens, J A van Mourik
Affiliations

Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

J Voorberg et al. Lancet. .

Abstract

Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance.

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