Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.

@article{Mumford2003FactorVI,
  title={Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.},
  author={Andrew Mumford and John H Mcvey and Colin V Morse and Keith Gomez and M{\aa}rten Steen and E A Norstrom and Edward G. D. Tuddenham and Bjorn Dahlback and P H B Bolton-Maggs},
  journal={British journal of haematology},
  year={2003},
  volume={123 3},
  pages={496-501}
}
We report a kindred in which two siblings suffered spontaneous venous thromboses in the second decade of life. Further investigation showed reduced coagulation factor V (FV) activity and activated protein C resistance (APCR) ratio but no other thrombophilic abnormalities. The reduction in APCR ratio persisted in a modified APCR assay in which FV activity was normalized between test and control plasmas. Analysis of the FV gene showed that the thrombotic individuals had a complex genotype that… CONTINUE READING
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