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Article

Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.

The Journal of biological chemistry - 6 Sept 1996

Ludlow L B, Schick B P, Budarf M L, Driscoll D A, Zackai E H, Cohen A, Konkle B A

Abstract excerpt

Bernard-Soulier Syndrome (BSS) is a rare congenital bleeding disorder due to absent or decreased expression of the glycoprotein Ib-IX-V (GpIb-IX-V) receptor complex on the platelet surface. To date, only mutations in GpIbalpha or GpIX have been reported in patients with BSS. GpIbbeta differs from the other proteins in this receptor in that the gene is more complex, and an alternative form is expressed in cells of...

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PMID: 8703016
DOI: 10.1074/jbc.271.36.22076

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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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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.PMID 8703016Read ↗

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Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.Semantic proximity Read ↗

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.Semantic proximity Read ↗

Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.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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