Article
Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease
2019-01-29
Abstract excerpt
<h4>ABSTRACT</h4> Huntington disease (HD) is an autosomal dominant neurological disorder that is caused by a CAG repeat expansion, translated into polyglutamine, in the huntingtin ( HTT) gene. Although the length of this repeat polymorphism is inversely correlated with age of onset (AOO), it does not fully explain the variability in AOO. Genomic studies have provided evidence for the involvement of DNA repair in...
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Identifiers and source
- Literature Corpus work
- b24ca8f7-afd6-5bb6-9bc4-881e3dd93018
- DOI
- 10.1101/533414
