Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell Hybridization |
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Authors: | E A DE WEERD-KASTELEIN W KEIJZER D BOOTSMA |
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Institution: | 1.Department of Cell Biology and Genetics,Rotterdam Medical Faculty,The Netherlands |
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Abstract: | XERODERMA pigmentosum is an autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation resulting in severe skin lesions. DNA repair replication after ultraviolet irradiation is absent or markedly reduced in cultivated fibroblasts from patients with xeroderma pigmentosum (XP cells) compared with normal cells1,2. Using the dark repair mechanism in microorganisms as a model, evidence has been presented that XP cells are defective in the incision step of DNA repair3–5. |
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