A rare sequence variant in intron 1 of thap1 is associated with primary dystonia

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 3, 2014, Pages 261-272

  Vemula, Satya R ^a   Xiao, Jianfeng ^a   Zhao, Yu ^a   Bastian, Robert W ^b   Perlmutter, Joel S ^c   Racette, Brad A ^c   Paniello, Randal C ^c   Wszolek, Zbigniew K ^d   Uitti, Ryan J ^d   Van Gerpen, Jay A ^d   Hedera, Peter ^e   Truong, Daniel D ^f   Blitzer, Andrew ^g   Rudzinska, Monika ^h   Momcilovic, Dragana ⁱ   Jinnah, Hyder A ^j   Frei, Karen ^k   Pfeiffer, Ronald F ^a   Ledoux, Mark S ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b Bastian Voice Institute   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MAYO CLINIC   (United States)

^e VANDERBILT UNIVERSITY   (United States)

^f The Parkinson and Movement Disorders Institute   (United States)

^g New York Center for Voice and Swallowing Disorders   (United States)

^h JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

ⁱ UNIVERSITY OF BELGRADE   (Serbia)

^j EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k LOMA LINDA UNIVERSITY HEALTH   (United States)

more..

Author keywords

Dystonia; DYT6; Intronic variant; Minigene assay; THAP1

Indexed keywords

EID: 84924980428     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.67     Document Type: Article

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