Article
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.
Human mutation - 1 Sept 2002
Bogdanova Nadja, Markoff Arseni, Pollmann Hartmut, Nowak-Göttl Ulrike, Eisert Roswith, Dworniczak Bernd, Eigel Antonin, Horst Jürgen
Abstract excerpt
Hemophilia A is a common X-linked bleeding disorder caused by various types of mutations in the factor VIII gene F8C. The most common intron 22-inversion is responsible for about 40% of the severe hemophilia A cases while large deletions, point mutations and small (less than 100 bp) deletions or insertions are responsible for the disease in the rest of patients. We report on nine novel (6 deletions, two indels...
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