Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6

Hum Genet. 2010 Apr;127(4):469.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Apoptosis Regulatory Proteins / genetics*
  • Base Sequence
  • Codon / genetics
  • DNA-Binding Proteins / genetics*
  • Dystonia Musculorum Deformans / genetics
  • Humans
  • Mutation, Missense
  • Nuclear Proteins / genetics*

Substances

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

Supplementary concepts

  • Dystonia 6, torsion