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Article

Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.

European journal of haematology - 1 Dec 2006

Kunishima Shinji, Sako Masahiro, Yamazaki Tomio, Hamaguchi Motohiro, Saito Hidehiko

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a rare bleeding disorder characterized by giant platelets, thrombocytopenia, and prolonged bleeding time. It is caused by abnormalities in the glycoprotein (GP) Ib/IX/V complex, the receptor for von Willebrand factor (vWF). Most cases of BSS described so far involve quantitative rather than qualitative defects in the complex. In this study, we investigated the effects of two...

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Identifiers

PMID: 16978236
DOI: 10.1111/j.0902-4441.2006.t01-1-EJH2817.x

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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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Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.PMID 16978236Read ↗

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