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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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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
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis Group 2018-04-01
Serier:Platelets
Fag:
bernard–soulier syndrome
gp9
Online adgang:http://dx.doi.org/10.1080/09537104.2017.1371288
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