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

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...

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Autors principals: Taylor, Elaine M., Broughton, Bernard C., Botta, Elena, Stefanini, Miria, Sarasin, Alain, Jaspers, Nicolaas G. J., Fawcett, Heather, Harcourt, Susan A., Arlett, Colin F., Lehmann, Alan R.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences of the USA 1997
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC23065/
https://ncbi.nlm.nih.gov/pubmed/9238033
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