Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation

J Neurol Sci. 2018 May 15:388:158. doi: 10.1016/j.jns.2018.03.026. Epub 2018 Mar 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Apoptosis Regulatory Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Dystonic Disorders / drug therapy
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology
  • Family
  • Female
  • Frameshift Mutation*
  • Humans
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Phenotype

Substances

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