Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?

Bernard–Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding. This rare disease, initially described in the 1970s, is the result of an abnormal formation of the glycoprotein complex Ib-IX-V (GP Ib-IX-V), a platelet...

Full description

Bibliographic Details

Published in:	Platelets
Main Authors:	P. Boisseau, C. Debord, M. Eveillard, A. Quéméner, M. Sigaud, M. Giraud, P. Talarmain, C. Thomas, G. Landeau, S. Bezieau, B. Pan Petesch, M. C. Béné, M. Fouassier
Format:	Article
Language:	English
Published:	Taylor & Francis Group 2018-04-01
Subjects:	bernard–soulier syndrome gp9
Online Access:	http://dx.doi.org/10.1080/09537104.2017.1371288