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THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

BACKGROUND: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families. METHODS: We sequenced the THAP1 gene in a series o...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Houlden, H., Schneider, S. A., Paudel, R., Melchers, A., Schwingenschuh, P., Edwards, M., Hardy, J., Bhatia, K. P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Academy of Neurology 2010
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2839194/
https://ncbi.nlm.nih.gov/pubmed/20211909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181d5276d
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