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Article

Nonsense-mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock-in mice.

Clinical genetics - 1 Aug 2021

Xie Zhanli, Jiang Jiang, Cao Lijuan, Jiang Miao, Yang Fei, Ma Zhenni, Wang Zhaoyue, Ruan Changgeng, Liu Hong, Zhou Lu

Abstract excerpt

Glanzmann's thrombasthenia (GT) is a severe hemorrhagic disease. It is caused by mutations in ITGA2B or ITGB3, which are the respective genes encoding integrin αIIb and β3. Despite widespread mutational analysis, the mechanisms underlying the extensive variability in bleeding severity observed among affected individuals remains poorly understood. In order to explore the mechanisms conferring for bleeding...

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PMID: 33928629
DOI: 10.1111/cge.13975

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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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