Probing rare von Willebrand disease–causing mutations in the D4 and C-domains of von Willebrand factor

Background: von Willebrand disease (VWD) is characterized by absence or reduction of plasma von Willebrand factor (VWF) levels or reduced protein function. While the spectrum of causative VWD mutations is vast, there has been limited characterization of variants occurring within the D4-C6 domains of...

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Hlavní autoři:	Golzar Mobayen, Sammy El-Mansi, Alain Chion, Thomas D. Nightingale, Thomas A.J. McKinnon
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2025-05-01
Edice:	Research and Practice in Thrombosis and Haemostasis
Témata:	von Willebrand factor von Willebrand disease variant analysis bleeding mutations
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2475037925002468
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