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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Vydáno v:	Proc Natl Acad Sci U S A
Hlavní autoři:	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.
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	National Academy of Sciences 1997
Témata:	Biological Sciences
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC23065/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9238033/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.94.16.8658
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