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Article

SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.

Journal of thrombosis and haemostasis : JTH - 1 Dec 2023

Zhang Jiasheng, Tang Jie, Li Guoqiang, Li Niu, Wang Jian, Yao Ruen, Yu Tingting

Abstract excerpt

BACKGROUND: Glanzmann thrombasthenia (GT) is an autosomal recessive platelet aggregation disorder caused by mutations in ITGA2B or ITGB3. OBJECTIVES: We aimed to assess the phenotype and investigate the genetic etiology of a GT pedigree. METHODS: A patient with bleeding manifestations and mild mental retardation was enrolled. Complete blood count, coagulation, and platelet aggregation tests were performed. Causal...

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Identifiers

PMID: 37604334
DOI: 10.1016/j.jtha.2023.08.012

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