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

Thrombosis and haemostasis - 1 Dec 2002

Hillmann Andrew, Nurden Alan, Nurden Paquita, Combrié Robert, Claeyssens Ségolène, Moran Niamh, Kenny Dermot

Abstract excerpt

Glycoprotein (GP) Ib-V-IX is a unique adhesion receptor complex on platelets. Mutations in GPIbalpha, Ibbeta, and IX can lead to the rare bleeding disorder, Bernard-Soulier Syndrome (BSS). Here, we report a novel hemizygous variant of BSS in which Pro29 in one GPIbbeta allele is substituted by a Leu (GPIbbeta:P29L). Fluoresence in situ hybridisation revealed that the 22q11 locus was deleted from the homologous...

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PMID: 12529755

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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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