Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.

  • A Mohl
  • Z Boda
  • R Jager
  • H Losonczy
  • A Marosi
  • T Masszi
  • E Nagy
  • L Nemes
  • Tobias Obser
  • Florian Oyen
  • G Radványi
  • [Unbekannt] Schlammadinger
  • Z S Szélessy
  • A Várkonyi
  • K Vezendy
  • B Vilimi
  • Reinhard Schneppenheim
  • I Bodó

Abstract

Type 3 von Willebrand disease (VWD) is an autosomal recessive bleeding disorder, characterized by virtually undetectable plasma von Willebrand factor (VWF) and consequently reduced plasma factor VIII levels. Genetic mutations responsible for type 3 VWD are very heterogeneous, scattered throughout the VWF gene and show high variability among different populations.

Bibliographical data

Original languageEnglish
Article number5
ISSN1538-7933
Publication statusPublished - 2011
pubmed 21362127