Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD

An in-frame heterozygous large deletion of exons 4 through 34 of the von Willebrand factor (VWF) gene was identified in a type 3 von Willebrand disease (VWD) index patient (IP), as the only VWF variant. The IP exhibited severe bleeding episodes despite prophylaxis treatment, with a short VWF half-li...

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Detalles Bibliográficos
Autores principales: Yadegari, Hamideh, Jamil, Muhammad Ahmer, Müller, Jens, Marquardt, Natascha, Rawley, Orla, Budde, Ulrich, El-Maarri, Osman, Lillicrap, David, Oldenburg, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945295/
https://www.ncbi.nlm.nih.gov/pubmed/34861678
http://dx.doi.org/10.1182/bloodadvances.2021005895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945295/
https://www.ncbi.nlm.nih.gov/pubmed/34861678
http://dx.doi.org/10.1182/bloodadvances.2021005895

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