Article
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Human mutation - 1 Mar 2013
Soltys Daniela T, Rocha Clarissa R R, Lerner Letícia K, de Souza Tiago A, Munford Veridiana, Cabral Fernanda, Nardo Tiziana, Stefanini Miria, Sarasin Alain, Cabral-Neto Januário B, Menck Carlos F M
Abstract excerpt
Nucleotide excision repair (NER) is the most flexible of all known DNA-repair mechanisms, and XPG is a 3'-endonuclease that participates in NER. Mutations in this gene (ERCC5) may result in the human syndrome xeroderma pigmentosum (XP) and, in some cases, in the complex phenotype of Cockayne syndrome (CS). Two Brazilian XP siblings, who were mildly affected, were investigated and classified into the XP-G group....
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