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The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we...

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Detalles Bibliográficos
Autores principales: Metzger, Silke, Walter, Carolin, Riess, Olaf, Roos, Raymund A. C., Nielsen, Jørgen E., Craufurd, David, Nguyen, Huu Phuc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718802/
https://www.ncbi.nlm.nih.gov/pubmed/23894380
http://dx.doi.org/10.1371/journal.pone.0068951