Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

Huntington's disease (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT. Expanded CAG repeat size is the primary determinant of age at onset and age at death in HD. Although HD pathogenesis is driven by the expanded CAG repeat, whether the mutation influences the expr...

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Publicado no:Hum Mol Genet
Main Authors: Shin, Aram, Shin, Baehyun, Shin, Jun Wan, Kim, Kyung-Hee, Atwal, Ranjit S., Hope, Jennifer M., Gillis, Tammy, Leszyk, John D., Shaffer, Scott A., Lee, Ramee, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Seong, Ihn Sik, Lee, Jong-Min
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6075029/
https://ncbi.nlm.nih.gov/pubmed/28165127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx033
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