A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C>A, rs200209986). Among 1672 subjects with mainly adult-onset primary dystonia, 12 h...

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Autors principals: Vemula, Satya R, Xiao, Jianfeng, Zhao, Yu, Bastian, Robert W, Perlmutter, Joel S, Racette, Brad A, Paniello, Randal C, Wszolek, Zbigniew K, Uitti, Ryan J, Van Gerpen, Jay A, Hedera, Peter, Truong, Daniel D, Blitzer, Andrew, Rudzińska, Monika, Momčilović, Dragana, Jinnah, Hyder A, Frei, Karen, Pfeiffer, Ronald F, LeDoux, Mark S
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2014
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4049367/
https://ncbi.nlm.nih.gov/pubmed/24936516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.67
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