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Proceedings of the National Academy of Sciences of the United States of America|August 5, 1997
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription geneE M Taylor, B C Broughton, E Botta, et al.The Journal of Investigative Dermatology|October 1, 1996
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cellsS Moriwaki, M Stefanini, A R Lehmann, et al.Human Molecular Genetics|December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophyV Viprakasit, R J Gibbons, B C Broughton, et al.Human Molecular Genetics|November 16, 2001
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD geneB C Broughton, M Berneburg, H Fawcett, et al.Pageof 3