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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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Dettagli Bibliografici
Autori principali: Metzger, Silke, Walter, Carolin, Riess, Olaf, Roos, Raymund A. C., Nielsen, Jørgen E., Craufurd, David, Nguyen, Huu Phuc
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718802/
https://ncbi.nlm.nih.gov/pubmed/23894380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0068951
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