Proulle, Valerie A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor. [electronic resource] - British journal of haematology 09 2019 - e184-e187 p. digital Publication Type: Case Reports; Letter ISSN: 1365-2141 Standard No.: 10.1111/bjh.16068 doi Subjects--Topical Terms: Bernard-Soulier Syndrome--geneticsChild, PreschoolHumansMaleMutation, MissensePlatelet Adhesiveness--geneticsPlatelet Glycoprotein GPIb-IX Complex--geneticsRepetitive Sequences, Amino Acidvon Willebrand Factor--genetics