Haplotype-based stratification of Huntington's disease

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplo...

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Udgivet i:Eur J Hum Genet
Main Authors: Chao, Michael J, Gillis, Tammy, Atwal, Ranjit S, Mysore, Jayalakshmi Srinidhi, Arjomand, Jamshid, Harold, Denise, Holmans, Peter, Jones, Lesley, Orth, Michael, Myers, Richard H, Kwak, Seung, Wheeler, Vanessa C, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643960/
https://ncbi.nlm.nih.gov/pubmed/28832564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.125
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