Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

Mov Disord. 2009 Dec 15;24(16):2428-9. doi: 10.1002/mds.22849.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Apoptosis Regulatory Proteins / genetics*
  • Arginine / genetics*
  • Child
  • DNA-Binding Proteins / genetics*
  • Dystonia / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Young Adult

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • THAP1 protein, human
  • Arginine