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CAG-encoded polyglutamine length polymorphism in the human genome

22 May 2007

Abstract excerpt

BACKGROUND: Expansion of polyglutamine-encoding CAG trinucleotide repeats has been identified as the pathogenic mutation in nine different genes associated with neurodegenerative disorders. The majority of individuals clinically diagnosed with spinocerebellar ataxia do not have mutations within known disease genes, and it is likely that additional ataxias or Huntington disease-like disorders will be found to be...

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PMID: 17519034
DOI: 10.1186/1471-2164-8-126

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