Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Journal
Seminars in thrombosis and hemostasis
ISSN: 1098-9064
Titre abrégé: Semin Thromb Hemost
Pays: United States
ID NLM: 0431155
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
pubmed:
31
12
2019
medline:
1
7
2021
entrez:
31
12
2019
Statut:
ppublish
Résumé
Sequencing of the gene encoding for von Willebrand factor (VWF) has brought new insight into the physiology of VWF as well as its pathophysiology in the context of von Willebrand disease (VWD). Molecular testing in VWD patients has shown high variability in the overall genetic background of this condition. Almost 600 mutations and many disease-causing mechanisms have been described in the 35 years since the
Identifiants
pubmed: 31887760
doi: 10.1055/s-0039-3402430
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
484-500Informations de copyright
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Déclaration de conflit d'intérêts
Dr. Sokol reports grants from VEGA during the conduct of the study. Dr. Stasko reports grants from APVV and VEGA during the conduct of the study.