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THAP1 (DYT6) mutations in early-onset primary dystonia

BACKGROUND: THAP1 was recently identified as the gene causing DYT6 primary dystonia; a founder mutation was detected in Amish–Mennonite families and a different mutation identified in an additional family. To determine the role of this gene more broadly, we screened for mutations in early-onset prim...

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Auteurs principaux: Bressman, Susan B., Raymond, Deborah, Fuchs, Tania, Heiman, Gary A., Ozelius, Laurie J., Saunders-Pullman, Rachel
Format: Artigo
Langue:Inglês
Publié: 2009
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3712754/
https://ncbi.nlm.nih.gov/pubmed/19345147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(09)70081-X
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