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Defective Repair Replication of DNA in Xeroderma Pigmentosum

Abstract

Normal skin fibroblasts can repair ultraviolet radiation damage to DNA by inserting new bases into DNA in the form of small patches. Cells from patients with the hereditary disease xeroderma pigmentosum carry a mutation such that repair replication of DNA is either absent or much reduced in comparison to normal fibroblasts. Patients with xeroderma pigmentosum develop fatal skin cancers when exposed to sunlight, and so the failure of DNA repair in the skin must be related to carcinogenesis.

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CLEAVER, J. Defective Repair Replication of DNA in Xeroderma Pigmentosum. Nature 218, 652–656 (1968). https://doi.org/10.1038/218652a0

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