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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha: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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