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Article

SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2010

Chen Chiung-Mei, Lee Li-Ching, Soong Bing-Wen, Fung Hon-Chung, Hsu Wen-Chuin, Lin Pei-Ying, Huang Hui-Ju, Chen Fen-Lin, Lin Cheng-Yueh, Lee-Chen Guey-Jen, Wu Yih-Ru

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) involves the expression of a CAG/CAA expansion mutation in the gene encoding TATA-box binding protein (TBP), a general transcription initiation factor. The spectrum of SCA17 clinical presentation is broad. METHODS: We screened for triplet expansi...

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Source

Identifiers

PMID: 20004653
DOI: 10.1016/j.cca.2009.12.002

Genes

TBP
HSPA5
HSPA8
HSPB1
PARK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20004653-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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