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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Publicat a:Eur J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia: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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