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[Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Apr 2024

Lu X M, Fu D Y, Zhang Y F, Zhao L D, Wang L, Yang J, Liu J, Zheng J W, Yang L H, Wang G

Abstract excerpt

Objective: The phenotype and genotype of a pedigree with Glanzmann thrombasthenia caused by compound heterozygous mutation in the ITGA2B gene and its molecular pathogenesis were explored. Methods: The platelet aggregation rate of the proband and his family was detected by using a platelet aggregation test with adenosine diphosphate, collagen, epinephrine, arachidonic acid, and ristocetin. The expression levels of...

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Identifiers

PMID: 38951065
DOI: 10.3760/cma.j.cn121090-20230816-00070
PMCID: PMC11168003

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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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