Article
Somatic mosaicism in hemophilia A: a fairly common event.
American journal of human genetics - 1 Jul 2001
Leuer M, Oldenburg J, Lavergne J M, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K
Abstract excerpt
Mutations in the large gene of clotting factor VIII (FVIII) are the most common events leading to severe human bleeding disorder. The high proportion of de novo mutations observed in this gene raises the possibility that a significant proportion of such mutations does not derive from a single germ cell but instead should be attributed to a germline or somatic mosaic originating from a mutation during early...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
