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Article

Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.

International journal of hematology - 1 Dec 2012

Takata Yuka, Kanaji Taisuke, Moroi Masaaki, Seki Ritsuko, Sano Masayuki, Nakazato Sachie, Sueoka Eisaburo, Imamura Yutaka, Okamura Takashi

Abstract excerpt

Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib/IX complex. The GPIX W127X mutation is the most common genetic defect in Japanese patients with BSS, which is often misdiagnosed as immune thrombocytopenic purpura, presumably due to residual expression of GPIbα. Neither the mechanism by which this mutation leads to a mild bleeding diathesis,...

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Identifiers

PMID: 23143686
DOI: 10.1007/s12185-012-1216-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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