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Article

Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2.

International journal of clinical & laboratory research - 1 Jan 1998

Condorelli D F, Trovato-Salinaro A, Spinella F, Valvo S, Saponara R, Giuffrida S

Abstract excerpt

Seven different chromosomal loci, designated SCA1 to SCA7 (spinocerebellar ataxias), have been identified as responsible for autosomal dominant cerebellar ataxias. Five genes (SCA1, 2, 3, 6, 7) have been cloned to date and show a single type of mutation, an unstable expansion of a CAG repeat coding for a polyglutamine stretch in the corresponding protein. We describe an improved polymerase chain reaction assay,...

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PMID: 9801928
DOI: 10.1007/s005990050039

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