Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization

Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization

Abstract Background Von Willebrand disease was diagnosed in two Afro‐Caribbean patients and sequencing of the VWF gene (VWF) revealed the presence of multiple variants located throughout the gene, including variants located in the D4 domain of VWF: p.(Pro2145Thrfs*5) in one patient and p.(Cys2216Phe...

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Bibliographic Details
Main Authors: Marie‐Daniéla Dubois, Ivan Peyron, Olivier‐Nicolas Pierre‐Louis, Serge Pierre‐Louis, Johalène Rabout, Pierre Boisseau, Annika deJong, Sophie Susen, Jenny Goudemand, Rémi Neviere, Pascal Fuseau, Olivier D. Christophe, Peter J. Lenting, Cécile V. Denis, Caterina Casari
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Research and Practice in Thrombosis and Haemostasis
Subjects:
binding assays
intracellular retention
recombinant proteins
von Willebrand disease
von Willebrand factor
Online Access:https://doi.org/10.1002/rth2.12737

Internet

https://doi.org/10.1002/rth2.12737

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