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

Autor: Proulle V; Service Hématologie Biologique, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France., Strassel C; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France., Perrault C; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France., Baas MJ; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France., Moog S; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France., Mangin P; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France., Nurden P; Institut Hospitalo Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France., Nurden A; Institut Hospitalo Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France., Adam F; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France., Bryckaert M; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France., Kauskot A; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France., Li R; Aflac Cancer and Blood Disorders Center, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Lanza F; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2019 Sep; Vol. 186 (6), pp. e184-e187. Date of Electronic Publication: 2019 Jul 01.
DOI: 10.1111/bjh.16068
Databáze: MEDLINE
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