Article
Moderation of hemophilia A phenotype by the factor V R506Q mutation.
Blood - 15 Aug 1996
Nichols W C, Amano K, Cacheris P M, Figueiredo M S, Michaelides K, Schwaab R, Hoyer L, Kaufman R J, Ginsburg D
Abstract excerpt
Although many examples of unrelated hemophilia A patients carrying identical point mutations in the factor VIII (FVIII) gene have been reported, the clinical phenotype is not always the same among patients sharing the same molecular defect. Possible explanations for this discrepancy include undetected additional mutations in the FVIII gene or coinheritance of mutations at other genetic loci that modulate FVIII...
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