The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
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Neurogenetics. 2006.
PMID: 16369839
An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of the expanded polyglutamine repeat is inversely correlated with the age-at-onset, additional genetic factors are th …
An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD …