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Genetic Background Modulates the Phenotype of a Mouse Model of DYT1 Dystonia

DYT1 dystonia is a debilitating neurological disease characterized by involuntary twisting movements. The disease is caused by an in-frame deletion (GAG, “ΔE”) mutation in the TOR1A gene that encodes the torsinA protein. Intriguingly, only 30% of mutation carriers exhibit motor symptoms despite the...

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Autori principali: Tanabe, Lauren M., Martin, Caitlin, Dauer, William T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3290549/
https://ncbi.nlm.nih.gov/pubmed/22393392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032245
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