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Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models
Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. He...
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| Veröffentlicht in: | Neurobiol Dis |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4939622/ https://ncbi.nlm.nih.gov/pubmed/27168150 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2016.05.003 |
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