Rook's Textbook of Dermatology, Ninth Edition 2016
DOI: 10.1002/9781118441213.rtd0079
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DNA Repair Disorders with Cutaneous Features

Hiva Fassihi

Abstract: The human genome is continually being damaged by a variety of sources (such as reactive oxygen species and ultraviolet and ionizing radiation). Cells have evolved a number of complex pathways (nucleotide excision repair, double strand break repair and mismatch repair) to recognize and repair this damage in actively transcribed genes. Defects in these pathways result in a number of disorders, many with skin involvement, commonly photosensitivity, cancer and premature ageing. Xeroderma pigmentosum (XP), Cockayne… Show more

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