Article
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease.
Human molecular genetics - 29 Sept 2020
Wright Galen E B, Caron Nicholas S, Ng Bernard, Casal Lorenzo, Casazza William, Xu Xiaohong, Ooi Jolene, Pouladi Mahmoud A, Mostafavi Sara, Ross Colin J D, Hayden Michael R
Abstract excerpt
Huntington disease (HD) is a neurodegenerative disorder that is caused by a CAG repeat expansion in HTT. The length of this repeat, however, only explains a proportion of the variability in age of onset in patients. Genome-wide association studies have identified modifiers that contribute toward a proportion of the observed variance. By incorporating tissue-specific transcriptomic information with these results,...
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