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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

✍ Scribed by Wim J. Kleijer; Vincent Laugel; Mark Berneburg; Tiziana Nardo; Heather Fawcett; Alexei Gratchev; Nicolaas G.J. Jaspers; Alain Sarasin; Miria Stefanini; Alan R. Lehmann

Book ID: 113567949
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 175 KB
Volume: 7
Category: Article
ISSN: 1568-7864
DOI: 10.1016/j.dnarep.2008.01.014

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The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair. The majority of the genes have now been cloned and many mutations in the genes identified. Th