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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Campagne, Sébastien, Muller, Isabelle, Milon, Alain, Gervais, Virginie
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2012
Pynciau:
Mynediad Ar-lein: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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