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Article

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

British journal of haematology - 1 Dec 1998

Noris P, Arbustini E, Spedini P, Belletti S, Balduini C L

Abstract excerpt

We describe a new variant of Bernard-Soulier syndrome characterized by almost normal amounts of GPIb and severely reduced GPIX and GPV. Despite surface expression, GPIbalpha failed to support ristocetin-induced platelet agglutination and to bind two conformation-dependent monoclonal antibodies, suggesting a qualitative defect. Sequence analysis of the gene coding for GPIX revealed a T-to-C substitution at base...

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Identifiers

PMID: 9886312
DOI: 10.1046/j.1365-2141.1998.01100.x

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A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.PMID 9886312Read ↗

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Biochemical and molecular basis of Bernard-Soulier syndrome: a review.Semantic proximity Read ↗

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

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