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Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1
The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6 primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions. Many of the mutations described in the DYT6 patients fall within the sequ...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3479173/ https://ncbi.nlm.nih.gov/pubmed/22844099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gks703 |
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