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

Satya R. Vemula, Jianfeng Xiao, Yu Zhao, Robert W. Bastian, Joel S. Perlmutter, Brad A. Racette, Randal C. Paniello, Zbigniew K. Wszolek, Ryan J. Uitti, Jay A. Van Gerpen, Peter Hedera, Daniel D. Truong, Andrew Blitzer, Monika Rudzinska, Dragana Momcilovic, Hyder A. Jinnah, Karen Frei, Ronald F. Pfeiffer, Mark S. Ledoux

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)261-272
Number of pages12
JournalMolecular Genetics and Genomic Medicine
Volume2
Issue number3
DOIs
StatePublished - May 2014

ASJC Scopus Subject Areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Keywords

  • DYT6
  • Dystonia
  • Intronic variant
  • Minigene assay
  • THAP1

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