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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Hlavní autoři: Silke Metzger, Carolin Walter, Olaf Riess, Raymund A C Roos, Jørgen E Nielsen, David Craufurd, REGISTRY Investigators of the European Huntington’s Disease Network, Huu Phuc Nguyen
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science (PLoS) 2013-01-01
Edice:PLoS ONE
On-line přístup:http://europepmc.org/articles/PMC3718802?pdf=render
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