Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.

Abstract excerpt

Heteroduplex screening identified 74 small mutations in the factor VIII genes of 72 families with hemophilia A. In addition, patients from 3 families with high titer inhibitors had partial gene deletions and 5 unrelated families that were negative for heteroduplex formation had a mutation on direct sequencing. The latter had mild hemophilia A with an inhibitor, and sequencing their exon 23 fragments found a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alternative Splicing
• Share to Codon, Nonsense
• Share to Factor VIII