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Article

Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.

Thrombosis research - 1 Apr 2013

Yamamoto Naomasa, Akamatsu Noriko, Sakuraba Hitoshi, Matsuno Kazuhiko, Hosoya Ryota, Nogami Haruo, Kasahara Kohji, Mitsuyama Susumu, Arai Morio

Abstract excerpt

A defective platelet glycoprotein (GP) Ib/IX/V complex [von Willebrand factor (VWF) receptor] results in Bernard-Soulier syndrome (BSS), which is characterized by macrothrombocytopenia and impaired ristocetin- and thrombin-induced platelet aggregation. We found 2 independent BSS-variant families: Case I [compound heterozygous mutations, p.Glu331X and a frame shift by a deletion at c.1444delA of GPIbα (GP1BA)...

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PMID: 23414566
DOI: 10.1016/j.thromres.2013.01.014

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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