von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein

  • Schneppenheim R
  • Budde U
  • 2

    Readers

    Mendeley users who have this article in their library.
  • N/A

    Citations

    Citations of this article.

Abstract

von Willebrand disease (VWD), the most common inherited bleeding disorder in humans, is characterised by a prolonged bleeding time due to quantitative and/or functional deficits of von Willebrand factor (VWF), a huge multimeric protein. Given the large size and complexity of the protein, the many functions of VWF, for example, binding to collagen, to platelet GPIb, and to FVIII, the localisation of these binding sites in different VWF domains, as well as the dependence on a high molecular weight multimer structure for proper function, VWF is prone to quantitative and very heterogeneous structural and functional defects. Comprehensive clinical and laboratory phenotypic description of patients with VWD in correlation to the genotype has considerably increased our knowledge on this disorder and the physiology and pathophysiology of VWF. This article focuses on the phenotype/genotype relationship in VWD and the context of VWD types and subtypes with particular VWF domains.

Author-supplied keywords

  • Genetic Testing
  • Humans
  • Mutation
  • Protein Conformation
  • von Willebrand Diseases/diagnosis
  • von Willebrand Factor/chemistry/*genetics/physiolo

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Authors

  • R Schneppenheim

  • U Budde

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free