Article
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Blood - 30 Jul 2009
Sutherland Megan S, Cumming Anthony M, Bowman Mackenzie, Bolton-Maggs Paula H B, Bowen Derrick J, Collins Peter W, Hay Charles R M, Will Andrew M, Keeney Stephen
Abstract excerpt
Direct sequencing of VWF genomic DNA in 21 patients with type 3 von Willebrand disease (VWD) failed to reveal a causative homozygous or compound heterozygous VWF genotype in 5 cases. Subsequent analysis of VWF mRNA led to the discovery of a deletion (c.221-977_532 + 7059del [p.Asp75_Gly178del]) of VWF in 7 of 12 white type 3 VWD patients from 6 unrelated families. This deletion of VWF exons 4 and 5 was absent in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.