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Article

Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2010

Nolte D, Sobanski E, Wissen A, Regula J U, Lichy C, Müller U

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. OBJECTIVE: To investigate the minimal CAG/CAA expansion within the TBP in SCA17. RESULTS: 285 patients with autosomal-dominant ataxia were examined, and abnormal or borderline...

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Source

Identifiers

PMID: 20587494
DOI: 10.1136/jnnp.2009.180711

Genes

TBP

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