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...

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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2018-04-01
coleção:	Platelets
Assuntos:	bernard–soulier syndrome gp9
Acesso em linha:	http://dx.doi.org/10.1080/09537104.2017.1371288
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