The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair
Abstract
Xeroderma pigmentosum is a hereditary disease clinically manifested primarily on sun-exposed skin, which develops abnormal pigmentation and malignant tumors. Mental retardation, areflexia, and other neurological abnormalities are seen in some patients. Only one biochemical defect has been found: cells from various tissues repair ultraviolet-induced deoxyribonucleic acid (DNA) damage slowly, compared with normal cells. Cell fusion studies show that genetic complementation can occur between fibroblasts from certain pairs of patients, thus overcoming the DNA-repair defect in each member of the pair and demonstrating the heterogeneity of the genetic lesion. The patients at NIH who have slow DNA repair comprise four distinct complementation groups, indicating that at least four mutations can cause defective DNA repair.
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Citations
Cites
Defective repair replication of DNA in xeroderma pigmentosum
CLEAVER, J. E. (1968) · Nature · doi:10.1038/218652a0 · Cited by 1,729
Production of pyrimidine dimers in DNA in the dark
Lamola, A. A. (1971) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(71)90701-7 · Cited by 71
Cited by
CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS
Harding, A. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 965
Role of oxygen free radicals in cancer development
Dreher, D., & Junod, A. F. (1996) · European Journal of Cancer · doi:10.1016/0959-8049(95)00531-5 · Cited by 855
Cockayne syndrome: Review of 140 cases
Nance, M. A., & Berry, S. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420115 · Cited by 806
How nucleotide excision repair protects against cancer
Friedberg, E. C. (2001) · Nature Reviews Cancer · doi:10.1038/35094000 · Cited by 730
Lehman, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H., de Weerd-Kastelein, E. A., & Bootsma, D. (1975) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.72.1.219 · Cited by 614
Metadata
- Authors
- ROBBINS, J. H., KRAEMER, K. H., LUTZNER, M. A., FESTOFF, B. W., & COON, H. G.
- Venue
- Annals of Internal Medicine
- Publisher
- American College of Physicians
- Published
- 1974-02-01
- Volume
- 80
- Issue
- 2
- Pages
- 221-248
- ISSN
- 0003-4819 (ISSN-L)
- 1539-3704
- OpenAlex
- W2081906096
- Cited by
- 752
- References
- 2
- FWCI
- 19.36
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair. https://app.cochat.ai/papers/10.7326/0003-4819-80-2-221
- The paper
- ROBBINS, J. H., KRAEMER, K. H., LUTZNER, M. A., FESTOFF, B. W., & COON, H. G. (1974). Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair. Annals of Internal Medicine. https://doi.org/10.7326/0003-4819-80-2-221
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
