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Article

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Turkish journal of medical sciences - 30 Apr 2021

Çalışkaner Zihni Onur, Abdul Waheed Abdullah, Tuzlakoğlu Öztürk Merve, Oymak Yeşim, Tazebay Uygar Halis, Akar Nejat, Kandilci Ayten, Torun Özkan Didem

Abstract excerpt

Background/aim: Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in...

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Identifiers

PMID: 32892537
DOI: 10.3906/sag-2003-259
PMCID: PMC8203157

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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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