Novel THAP1 sequence variants in primary dystonia

BACKGROUND: THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in THAP1 is responsible for DYT6 dystonia in Amish-Mennonites. Subsequent screening efforts in familial, mainly earl...

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Main Authors: Xiao, J, Zhao, Y, Bastian, R W., Perlmutter, J S., Racette, B A., Tabbal, S D., Karimi, M, Paniello, R C., Wszolek, Z K., Uitti, R J., Van Gerpen, J A., Simon, D K., Tarsy, D, Hedera, P, Truong, D D., Frei, K P., Dev Batish, S, Blitzer, A, Pfeiffer, R F., Gong, S, LeDoux, M S.
Format: Artigo
Language:Inglês
Published: American Academy of Neurology 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2809032/
https://ncbi.nlm.nih.gov/pubmed/20083799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181ca00ca
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