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The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD.

AuthorsFanny Lassalle, Christophe Zawadzki, Annie Harroche, Christine Biron-Andréani, Céline Falaise, Pierre Boisseau, Nicolas Duployez, Emmanuelle Jeanpierre, Antoine Rauch, Camille Paris, Sophie Susen, Jenny Goudemand
JournalHaemophilia : the official journal of the World Federation of Hemophilia (Haemophilia) Vol. 27 Issue 4 Pg. e491-e494 (Jul 2021) ISSN: 1365-2516 [Electronic] England
PMID33403757 (Publication Type: Letter)
Chemical References
  • Isoantibodies
  • von Willebrand Factor
Topics
  • Adolescent
  • Child
  • Exons (genetics)
  • Female
  • Humans
  • Isoantibodies
  • Male
  • von Willebrand Disease, Type 3
  • von Willebrand Diseases (genetics)
  • von Willebrand Factor (genetics)

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