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Article

The Critical Interaction of Glycoprotein (GP) Ibβ With GPIX—A Genetic Cause of Bernard-Soulier Syndrome

1 May 1999

Abstract excerpt

Bernard-Soulier syndrome is an uncommon bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP)Ib/IX complex. The complex is composed of four subunits, GPIbalpha, GPIbbeta, GPIX, and GPV. Here we describe the molecular basis of a novel Bernard-Soulier syndrome variant in a patient in whom GPIbalpha and GPIX were undetectable on the platelet surface. DNA sequence analysis...

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Identifiers

PMID: 10216092
DOI: 10.1182/blood.v93.9.2968

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Source receipt: pubmed, retrieved 7 Sept 2026.

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The Critical Interaction of Glycoprotein (GP) Ibβ With GPIX—A Genetic Cause of Bernard-Soulier SyndromePMID 10216092Read ↗

Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.Semantic proximity Read ↗

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

Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.Semantic proximity Read ↗

A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.Semantic proximity Read ↗

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

Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimeraSemantic proximity Read ↗

Bernard–Soulier syndrome due to the homozygous Asn‐45Ser mutation in GPIX: an unexpected, frequent finding in GermanySemantic proximity Read ↗

[Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].Semantic proximity Read ↗

A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.Semantic proximity Read ↗

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