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Article

Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.

Chinese medical journal - 1 Jun 2010

Zheng Jia-yong, Jin Yan-hui, Zhu Yong-lin, Jin Pei-pei, Zhang De-ting, Jin Zi-bing

Abstract excerpt

BACKGROUND: Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterized by the tendency to hemorrhage and the inability of platelets to aggregate in response to agonists. GT is caused by a defect of the platelet glycoprotein IIb/IIIa complex. The objective of this study was to describe the clinical features and the genetic cause of GT in a 6-year-old girl from south China. METHODS: A...

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Source

Identifiers

PMID: 20819594

Genes

ITGB3

Provenance

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

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Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.PMID 20819594Read ↗

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