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Article

Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis.

Journal of thrombosis and haemostasis : JTH - 1 Feb 2022

Kimmerlin Quentin, Dupuis Arnaud, Bodakuntla Satish, Weber Claire, Heim Véronique, Henriot Véronique, Moog Sylvie, Eckly Anita, Guéguen Paul, Ferec Claude, Gachet Christian, Janke Carsten, Lanza François

Abstract excerpt

BACKGROUND: In the panel of genes commonly associated with inherited macrothrombocytopenia, an important fraction encodes key cytoskeletal proteins such as tubulin isotypes, the building blocks of microtubules. Macrothrombocytopenia-causing mutations have been identified in the TUBB1 and TUBA4A genes, emphasizing their importance in the formation of platelets and their marginal band, a unique microtubule...

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PMID: 34704371
DOI: 10.1111/jth.15573

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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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