References
- Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 1968;218:652-6. https://doi.org/10.1038/218652a0
- Spivak G, Hanawalt PC. Photosensitive human syndromes. Mutat Res 2015;776:24-30. https://doi.org/10.1016/j.mrfmmm.2014.11.003
- Moriwaki S. Human DNA repair disorders in dermatology: a historical perspective, current concepts and new insight. J Dermatol Sci 2016;81:77-84. https://doi.org/10.1016/j.jdermsci.2015.09.008
- Feltes BC, Bonatto D. Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications. Mutat Res Rev Mutat Res 2015;763:306-20. https://doi.org/10.1016/j.mrrev.2014.12.002
- Lehmann AR. Xeroderma pigmentosum in the United Kingdom. Photochem Photobiol 2015;91:484-5. https://doi.org/10.1111/php.12301
- Kraemer KH, DiGiovanna JJ. Forty years of research on xeroderma pigmentosum at the US National Institutes of Health. Photochem Photobiol 2015;91:452-9. https://doi.org/10.1111/php.12345
- Ueda T, Kanda F, Aoyama N, Fujii M, Nishigori C, Toda T. Neuroimaging features of xeroderma pigmentosum group A. Brain Behav 2012;2:1-5. https://doi.org/10.1002/brb3.22
- Tanioka M, Budiyant A, Ueda T, Nagano T, Ichihashi M, Miyachi Y, et al. A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. J Invest Dermatol 2005;125:244-6. https://doi.org/10.1111/j.0022-202X.2005.23783.x
- Health Insurance Review & Assessment Service (HIRA). HIRA-PPS [Internet]. Wonju, Korea: HIRA, 2015 [cited 2016 Jun 1]. [http://opendata.hira.or.kr/op/opc/selectPatDataAplInfoView.do]
- Korea National Research Institute of Health. Korean Referenece Genome 2016 [Internet]. Cheongju, Korea: Korea National Research Institute of Health, 2016 [cited 2016 Jan 1]. [http://152.99.75.168/KRGDB/browser/mainBrowser.jsp]
-
Kraemer KH, DiGiovanna JJ. Xeroderma Pigmentosum. 2003 Jun 20 [updated 2014 Feb 13]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, editors.
$GeneReviews^{(R)}$ [Internet]. Seattle (WA): University of Washington, 1993-2016 [cited 2016 Jun 1]. [http://www.ncbi.nlm.nih.gov/books/NBK1397/] - Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, et al. A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma. Br J Dermatol 2006;155:81-8. https://doi.org/10.1111/j.1365-2133.2006.07272.x
- Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008;7:744-50. https://doi.org/10.1016/j.dnarep.2008.01.014
- Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985;3:33-69. https://doi.org/10.1016/0738-081X(85)90096-3
- Imoto K, Nadem C, Moriwaki S, Nishigori C, Oh KS, Khan SG, et al. Ancient origin of a Japanese xeroderma pigmentosum founder mutation. J Dermatol Sci 2013;69:175-6. https://doi.org/10.1016/j.jdermsci.2012.10.008
- Cleaver JE. Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J Dermatol Sci 2000;23:1-11. https://doi.org/10.1016/S0923-1811(99)00088-2
- Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM, Macphee DG, et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res 2006;601:171-8.
- Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994;130:191-7. https://doi.org/10.1001/archderm.1994.01690020057009