Article
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Molecular genetics and metabolism - 1 Mar 2006
Kakela Justin K, Friedman Kenneth D, Haberichter Sandra L, Buchholz Nadine P, Christopherson Pam A, Kroner Philip A, Gill Joan Cox, Montgomery Robert R, Bellissimo Daniel B
Abstract excerpt
Von Willebrand disease (VWD) is a common inherited bleeding disorder caused by quantitative (types 1 and 3) and qualitative (type 2) defects in von Willebrand factor (VWF). The VWF gene is a large gene containing 52 exons; except for type 2 VWD, the majority of mutations causing VWD are not localized to specific exons. We have used denaturing high performance liquid chromatography (DHPLC) to scan the coding...
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