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

Platelets - 1 May 2018

Boisseau P, Debord C, Eveillard M, Quéméner A, Sigaud M, Giraud M, Talarmain P, Thomas C, Landeau G, Bezieau S, Petesch B Pan, Béné M C, Fouassier M

Abstract excerpt

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 receptor of von Willebrand factor. A large number of mutations, sometimes involving the GP9 gene, have been...

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PMID: 29119855
DOI: 10.1080/09537104.2017.1371288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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