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Article

Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2.

Journal of neurology - 1 Sept 1999

Matsuura T, Sasaki H, Yabe I, Hamada K, Hamada T, Shitara M, Tashiro K

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1. We analyzed CAG repeat size of the SCA2 allele in two deceased patients (father and daughter) to investigate the repeat mosaicism in CNS regions. The CAG repeat size was examined using lymphoblastoid cell lines, frozen brain tissues, and paraffin-embedded...

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Source

Identifiers

PMID: 10525984
DOI: 10.1007/s004150050464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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