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Article

TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.

European journal of haematology - 1 Apr 2014

Kunishima Shinji, Nishimura Satoshi, Suzuki Hidenori, Imaizumi Masue, Saito Hidehiko

Abstract excerpt

This report describes a family with TUBB1-associated macrothrombocytopenia diagnosed based on abnormal platelet β1-tubulin distribution. A circumferential marginal microtubule band was undetectable, whereas microtubules were frayed and disorganized in every platelet from the affected individuals. Patients were heterozygous for novel TUBB1 p.F260S that locates at the α- and β-tubulin intradimer interface. Mutant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24344610
DOI: 10.1111/ejh.12252

Genes

TUBB1

Variants

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TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.PMID 24344610Read ↗

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