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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L

Berber, Ergül; Özbil, Mehmet; Brown, Christine; Başlar, Zafer; Çağlayan, S. Hande; Lillicrap, David (SIMTI Servizi, 2017)

Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ...