2019•British Journal of HaematologyOpen access

A novel missense mutation in a leucine‐rich repeat of GPIbα in a Bernard‐Soulier variant reduces shear‐dependent adherence on von Willebrand factor

Valérie Proulle, Catherine Strassel, Christelle Perrault, Marie‐Jeanne Baas, Sylvie Moog, Pierre Mangin, Paquita Nurden, Alan T. Nurden, Frédéric Adam, Marijke Bryckaert, Alexandre Kauskot, Renhao Li, François Lanza

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Abstract

The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.

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Key concepts: Bernard–Soulier syndrome, Ristocetin, Von Willebrand factor, Missense mutation, Platelet, Platelet Glycoprotein GPIb-IX Complex, Von Willebrand disease, Glycoprotein Ib