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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049367/
https://www.ncbi.nlm.nih.gov/pubmed/24936516
http://dx.doi.org/10.1002/mgg3.67

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