Article
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.
British journal of haematology - 1 Mar 2005
Bowen Derrick J, Collins Peter W, Lester Will, Cumming Anthony M, Keeney Steven, Grundy Pamela, Enayat Saad M, Bolton-Maggs Paula H B, Keeling David M, Khair Kate, Tait R Campbell, Wilde Jonathon T, Pasi K John, Hill Frank G H
Abstract excerpt
The molecular pathogenesis of type 1 von Willebrand disease (VWD) is uncertain in most patients. We examined 30 type 1 VWD families in the UK Haemophilia Centre Doctors' Organization study. Heterozygosity for Y/C1584 was present in eight of 30 (27%) families and 19 of 76 (25%) individuals with type 1 VWD recruited into the study. Eighteen (95%) of these 19 individuals were blood group O. C1584 did not...
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