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Article
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. In this study, we describe the identification and characterization of the gene harbouring...
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Article
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19–36 repeats while SCA...
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Article
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2–Megabase stretch of DNA from the short arm of chrom...