The influence of DNA repair on neurological degeneration cachexia skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A XP-C and XP-D)

摘要

BackgroundTo investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and defects in NER complementation groups XP-A, XP-C or XP-D.