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...

Полное описание

Библиографические подробности

Главные авторы:	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
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Taylor & Francis Group 2018-04-01
Серии:	Platelets
Предметы:	bernard–soulier syndrome gp9
Online-ссылка:	http://dx.doi.org/10.1080/09537104.2017.1371288
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