Article
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Movement disorders : official journal of the Movement Disorder Society - 15 Feb 2011
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
Abstract excerpt
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 (c.-237_236GA>TT). RESULTS: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with...
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