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Article

Long repeat tracts at SCA8 in major psychosis.

American journal of medical genetics - 4 Dec 2000

Vincent J B, Yuan Q P, Schalling M, Adolfsson R, Azevedo M H, Macedo A, Bauer A, DallaTorre C, Medeiros H M, Pato M T, Pato C N, Bowen T, Guy C A, Owen M J, O'Donovan M C, Paterson A D, Petronis A, Kennedy J L

Abstract excerpt

Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also...

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PMID: 11121201
DOI: 10.1002/1096-8628(20001204)96:6<873::aid-ajmg37>3.0.co;2-9

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