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Article

Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.

Thrombosis and haemostasis - 1 Jun 1997

Kanaji T, Okamura T, Kurolwa M, Noda M, Fujimura K, Kuramoto A, Sano M, Nakano S, Niho Y

Abstract excerpt

We investigated two unrelated patients with Bernard-Soulier syndrome (BSS) by performing molecular and genetic analysis. A flow cytometric and immunoblotting analysis showed GP Ib alpha to be absent from the platelet membrane of both patients. Other glycoproteins that formed GP Ib/IX/V complex we...

Topics

Adult
Alleles
Bernard-Soulier Syndrome
Blood Platelets
Female
Flow Cytometry
Frameshift Mutation
Humans
Male
Platelet Glycoprotein GPIb-IX Complex

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9241731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9241731-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.PMID 9241731Read ↗

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