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Article

Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.

Annals of hematology - 1 May 2009

Hadjkacem Basma, Elleuch Henda, Gargouri Jalel, Gargouri Ali

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive genetic disorder characterized by thrombocytopenia, circulating giant platelets, and prolonged bleeding time. BSS is explained by a defect in primary hemostasis owing to quantitative or qualitative defect in the GPIb-IX-V complex, composed of four subunits: GPIbalpha, GPIbbeta, GPIX, and GPV. In this study, we report a novel GPIbbeta defect in a...

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PMID: 18825380
DOI: 10.1007/s00277-008-0611-8

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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