Article
Genetic counseling of hemophilia carriers.
Seminars in thrombosis and hemostasis - 1 Feb 2003
Ljung Rolf, Tedgård Ulf
Abstract excerpt
Basic analysis of a potential carrier includes calculation of the probability, or odds, for carriership based on pedigree and clotting factor analysis. Genotype assessment constitutes a more accurate method of carrier detection. Where circumstances permit, the genetic diagnosis of hemophilia should be based on the direct identification of the pathogenic mutation in the factor (F) VIII gene. Neutral mutations in...
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