Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

@article{Taylor1997XerodermaPA,
  title={Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.},
  author={Elaine M. Taylor and Bernard C. Broughton and Elena Botta and Marco Stefanini and Alain Sarasin and Nicolaas G. J. Jaspers and Heather Fawcett and Susan A. Harcourt and Colin F. Arlett and Alan R. Lehmann},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1997},
  volume={94 16},
  pages={
          8658-63
        }
}
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. To determine if the clinical phenotypes of XP and TTD can be attributed to the sites of the mutations, we have identified the mutations in a large group of TTD and XP-D patients. Most sites of mutations differed… CONTINUE READING

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