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High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island
Author(s) -
Fiore Mathieu,
De Thoré Céline,
RandrianaivoRanjatoelina Hanitra,
Baas MarieJeanne,
Jacquemont MarieLine,
Dreyfus Marie,
LavenuBombled Cécile,
Li Renhao,
Gachet Christian,
Dupuis Arnaud,
Lanza Francois
Publication year - 2020
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16479
Subject(s) - bernard–soulier syndrome , founder effect , genetics , mutation , gene , coding region , medicine , biology , genotype , glycoprotein , haplotype