title: Deficiency of gamma-ray excision repair in skin fibroblasts from patients with Fanconi's anemia.
abstract: The capacity of preparations of skin fibroblasts from normal individuals and patients with Fanconi's anemia to excise gamma-ray products of the 5,6-dihydroxydihydrothymine type from exogenous DNA was investigated. The excision capacity of whole-cell homogenates of fibroblasts from two of four patients with Fanconi's anemia was substantially below normal. This repair deficiency was further pronounced in nuclear preparations from cells of the same two patients.
mesh_terms: D000741:Anemia, Aplastic / Q000378:metabolism*; D002467:Cell Nucleus / Q000378:metabolism; D002478:Cells, Cultured; D004247:DNA / Q000378:metabolism / Q000528:radiation effects*; D004260:DNA Repair; D005199:Fanconi Anemia / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D005720:Gamma Rays; D006801:Humans; D011830:Radiation Effects; D011839:Radiation, Ionizing; D013936:Thymidine / Q000031:analogs & derivatives / Q000378:metabolism
chemical_list: D004247:DNA; D013936:Thymidine