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Article

Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Oct 2009

Xu Q, Li X H, Wang J L, Jiang H, Zhang S, Lei L F, Shen L, Xia K, Pan Q, Long Z G, Tang B S

Abstract excerpt

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene. This study aimed to assess the frequency of SCA17 in patients from mainland China. Analysis of CAG/CAA expansion in this gene was performed in 263 patients consisting of 100 probands with dominantly inherited ataxias and 163 patients...

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Source

Identifiers

PMID: 19581089
DOI: 10.1016/j.jocn.2009.05.004

Genes

TBP

Provenance

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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