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Article

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.

The Journal of molecular diagnostics : JMD - 1 May 2002

Dorschner Michael O, Barden Deborah, Stephens Karen

Abstract excerpt

The autosomal-dominant spinocerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders with variable expression and phenotypic overlap. An accurate diagnosis relies on detection of a mutation in a specific causative gene, which is typically an abnormal number of CAG trinucleotide repeats. To streamline testing in a clinical setting, we converted our current panel of tests for the...

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Identifiers

PMID: 11986402
DOI: 10.1016/S1525-1578(10)60689-7
PMCID: PMC1906987

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