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Article

Expanding the genetic spectrum of TUBB1 -related thrombocytopenia

13 Sept 2021

Abstract excerpt

β1-Tubulin plays a major role in proplatelet formation and platelet shape maintenance, and pathogenic variants in TUBB1 lead to thrombocytopenia and platelet anisocytosis (TUBB1-RT). To date, the reported number of pedigrees with TUBB1-RT and of rare TUBB1 variants with experimental demonstration of pathogenicity is limited. Here, we report 9 unrelated families presenting with thrombocytopenia carrying 6...

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PMID: 34516618
DOI: 10.1182/bloodadvances.2020004057

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