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Long repeat tracts at SCA8 in major psychosis

Vincent, John B.; Yuan, Qiu-Ping; Schalling, Martin; Adolfsson, R; Azevedo, M. Helena; Macedo, António; Bauer, Amy; DallaTorre, Camille

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 als...

Date: 2000 | Origin: Estudo Geral - Universidade de Coimbra

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