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The (CAG)(n) tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

Machado–Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)(n) motif within exon 10 of the ATXN3 gene, located at 14q32.1. The varia...

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Detalhes bibliográficos
Main Authors: Bettencourt, Conceição, Santos, Cristina, Montiel, Rafael, Kay, Teresa, Vasconcelos, João, Maciel, Patrícia, Lima, Manuela
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987309/
https://ncbi.nlm.nih.gov/pubmed/19935829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.215
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