The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

Huntington disease (HD) is caused by an expanded HTT CAG repeat that leads in a length-dependent, completely dominant manner to onset of a characteristic movement disorder. HD also displays early mortality, so we tested whether the expanded CAG repeat exerts a dominant influence on age at death and...

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Publicat a:Am J Hum Genet
Autors principals: Keum, Jae Whan, Shin, Aram, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Lucente, Diane, Hadzi, Tiffany, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746370/
https://ncbi.nlm.nih.gov/pubmed/26849111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.12.018
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