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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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