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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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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2012
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| Предметы: | |
| Online-ссылка: | 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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