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Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia
Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) are responsible for DYT6 dystonia. Until now, more than eighty different mutations in THAP1 gene have been found in patients with primary dystonia, and two third of them are missense mutations. The potential pathogeneses of t...
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| Publié dans: | J Mol Neurosci |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer US
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7334247/ https://ncbi.nlm.nih.gov/pubmed/32112337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12031-020-01490-2 |
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