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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Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Taylor & Francis Group 2018-04-01
Σειρά:	Platelets
Θέματα:	bernard–soulier syndrome gp9
Διαθέσιμο Online:	http://dx.doi.org/10.1080/09537104.2017.1371288
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