Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age of onset (AOO), it does not fully explain the variability in AOO. We assessed the sequence downstream of the CAG repeat in HTT [reference: (CA...

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Publicado en:Am J Hum Genet
Main Authors: Wright, Galen E.B., Collins, Jennifer A., Kay, Chris, McDonald, Cassandra, Dolzhenko, Egor, Xia, Qingwen, Bečanović, Kristina, Drögemöller, Britt I., Semaka, Alicia, Nguyen, Charlotte M., Trost, Brett, Richards, Fiona, Bijlsma, Emilia K., Squitieri, Ferdinando, Ross, Colin J.D., Scherer, Stephen W., Eberle, Michael A., Yuen, Ryan K.C., Hayden, Michael R.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556907/
https://ncbi.nlm.nih.gov/pubmed/31104771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.007
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