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Article

Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.

Thrombosis and haemostasis - 1 Dec 2001

González-Manchón C, Larrucea S, Pastor A L, Butta N, Arias-Salgado E G, Ayuso M S, Parrilla R

Abstract excerpt

We report the molecular genetic analysis of the Bernard-Soulier syndrome (BSS) phenotype in two related patients showing absence of glycoprotein (GP) Ibalpha and detectable amounts of GPIX on the platelet surface, and a truncated form of GPIbalpha in solubilized platelets and plasma. They both were compound heterozygotes for the GPIbalpha gene: a maternal allele with a T insertion at position 1418 causing a...

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PMID: 11776304

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

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