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Article

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.

Blood - 8 Jan 2009

Kunishima Shinji, Kobayashi Ryoji, Itoh Tomohiko J, Hamaguchi Motohiro, Saito Hidehiko

Abstract excerpt

Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We identified the first TUBB1 mutation, R318W, in a patient with congenital macrothrombocytopenia. The patient was heterozygous for Q43P, but this single-nucleotide polymorphism (SNP) did not relate to macrot...

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Source

Identifiers

PMID: 18849486
DOI: 10.1182/blood-2008-06-162610

Genes

TUBB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18849486-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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