The factor V Leiden mutation, also designated as 1691 G>A or R506Q, is the major heritable risk factor for venous thromboembolism 1,2. This mutation in the coagulation factor V gene results in resistance of factor V to inactivation by activated protein C (APC)3-5. Approximately 5% of Caucasians are either heterozygous carriers or homozygous for the factor V Leiden mutation; the prevalences are lower for other ethnic groups 6,7.

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Factor V Leiden Mutation Analysis Assay Summary
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  1. Voorberg, J. et al. (1994). Lancet 343:1535-1536.
  2. Zoller, B. and Dahlback, B. (1994). Lancet 343:1536-1538.
  3. Bertina, R. M. et al. (1994). Nature 369:64-67.
  4. Greengard, J. S. et al. (1994). Lancet 343:1361-1362.
  5. Sun, X. et al. (1994). Blood 83:3120-3125.
  6. Gregg, J. P. et al. (1997). American Journal of Medical Genetics 73:334-336.
  7. Ridker, P. M. et al. (1997). JAMA 277:1305-1307.