Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes

Pathol Biol (Paris). 1998 Nov;46(9):679-80.
[Article in English, French]
No abstract available

MeSH terms

  • DNA Helicases / genetics*
  • DNA Repair*
  • Gene Expression Regulation / drug effects*
  • Humans
  • Mutation*
  • Transcription Factor TFIIH
  • Transcription Factors / pharmacology*
  • Transcription Factors, TFII*
  • Xeroderma Pigmentosum / enzymology
  • Xeroderma Pigmentosum / genetics*

Substances

  • Transcription Factors
  • Transcription Factors, TFII
  • Transcription Factor TFIIH
  • DNA Helicases