Article
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.
American journal of human genetics - 1 Aug 1998
Hasstedt S J, Bovill E G, Callas P W, Long G L
Abstract excerpt
We used two-locus segregation analysis to test whether an unknown genetic defect interacts with protein C deficiency to increase susceptibility to venous thromboembolic disease in a single large pedigree. Sixty-seven pedigree members carry a His107Pro mutation in the protein C gene, which reduces protein C levels to a mean of 46% of normal. Twenty-one carriers of the mutation and five other pedigree members had...
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