Article
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proceedings of the National Academy of Sciences of the United States of America - 5 Aug 1997
Taylor E M, Broughton B C, Botta E, Stefanini M, Sarasin A, Jaspers N G, Fawcett H, Harcourt S A, Arlett C F, Lehmann A R
Abstract excerpt
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...
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