The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1...

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Veröffentlicht in:	Movement disorders 2011-02, Vol.26 (3), p.549-553
Hauptverfasser:	Xiao, Jianfeng, Zhao, Yu, Bastian, Robert W., Perlmutter, Joel S., Racette, Brad A., Tabbal, Samer D., Karimi, Morvarid, Paniello, Randal C., Wszolek, Zbigniew K., Uitti, Ryan J., Van Gerpen, Jay A., Simon, David K., Tarsy, Daniel, Hedera, Peter, Truong, Daniel D., Frei, Karen P., Blitzer, Andrew, Rudzińska, Monika, Pfeiffer, Ronald F., Le, Carrie, LeDoux, Mark S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Apoptosis Regulatory Proteins - genetics Base Sequence Biological and medical sciences Child Diseases of striated muscles. Neuromuscular diseases DNA-Binding Proteins - genetics dystonia Dystonic Disorders - etiology Dystonic Disorders - genetics DYT6 European Continental Ancestry Group - genetics Female Gene Frequency Genotype high-resolution melting Humans Male Medical sciences Middle Aged Movement disorders Mutation - genetics Neurology Nuclear Proteins - genetics THAP1 untranslated region Untranslated Regions - genetics Young Adult
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