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

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.(Cys2216Phefs*9) in...

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Detalles Bibliográficos
Autores principales: Dubois, Marie‐Daniéla, Peyron, Ivan, Pierre‐Louis, Olivier‐Nicolas, Pierre‐Louis, Serge, Rabout, Johalène, Boisseau, Pierre, de Jong, Annika, Susen, Sophie, Goudemand, Jenny, Neviere, Rémi, Fuseau, Pascal, Christophe, Olivier D., Lenting, Peter J., Denis, Cécile V., Casari, Caterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198896/
https://www.ncbi.nlm.nih.gov/pubmed/35734101
http://dx.doi.org/10.1002/rth2.12737

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