title: The molecular genetics of von Willebrand disease.
abstract: Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD.
  
  
  BACKGROUND
  None declared.
authors.affiliation: İstanbul Arel University, Department of Molecular Biology and Genetics, İstanbul, Turkey.
authors.forename: Ergül
authors.initials: E
authors.lastname: Berber
keywords: Von Willebrand factor; Von Willebrand factor biosynthesis; von Willebrand disease