Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy

Abstract

Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by expansion of an unstable, tandemly repeated trinucleotide sequence, (CAG)n, in a novel gene on human chromosome 12p12-pter. Molecular diagnosis of DRPLA uses the polymerase chain reaction (PCR) to amplify and characterize the number of CAG repeats… (More)
DOI: 10.1007/s004390050371

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