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Lancet. 1994 Jun 18;343(8912):1535-6.

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

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Department of Blood Coagulation, The Netherlands Red Cross Blood Transfusion Service, Amsterdam.


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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