Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2663.pdf
Reference148 articles.
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2. Hoeijmakers, J. H. Genome maintenance mechanisms for preventing cancer. Nature 411, 366–374 (2001). A thorough review of the major pathways of nucleotide and base excision repair and DNA strand break repair and their relationships to human disease.
3. De Weerd-Kastelein, E. A., Keijzer, W. & Bootsma, D. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature New Biol. 238, 80–83 (1972).
4. Wood, R. D., Mitchell, M., Sgouros, J. & Lindahl, T. Human DNA repair genes. Science 291, 1284–1289 (2001).
5. Kraemer, K. H., Lee, M. M. & Scotto, J. Xeroderma pigmentosum. Cutaneous, ocular and neurological abnormalities in 830 published cases. Arch. Dermatol. 123, 241–250 (1987). This paper describes the time course of onset of clinical symptoms, including photosensitivity and cancer, in a large cohort of patients with XP. It clearly shows the early onset and increased level of skin cancer in most patients.
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