True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product
Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair UV-induced DNA damage. The major form of XP is defective in nucleotide excision repair (NER) and comprises seven complementation groups (A–G). The genes defective in all groups have bee...
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Veröffentlicht in: | Human molecular genetics 2003-07, Vol.12 (13), p.1507-1522 |
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