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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2019
נושאים:
Article
גישה מקוונת: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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