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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 journal › Article › peer-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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