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Three school-age cases of xeroderma pigmentosum variant type.
Ono R, Masaki T, Takeuchi S, Shimizu A, Tanioka M, Kambe N, Matsue H, Kamide R, Nishigori C. Ono R, et al. Photodermatol Photoimmunol Photomed. 2013 Jun;29(3):132-9. doi: 10.1111/phpp.12038. Photodermatol Photoimmunol Photomed. 2013. PMID: 23651273
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
Tanioka M, Masaki T, Ono R, Nagano T, Otoshi-Honda E, Matsumura Y, Takigawa M, Inui H, Miyachi Y, Moriwaki S, Nishigori C. Tanioka M, et al. J Invest Dermatol. 2007 Jul;127(7):1745-51. doi: 10.1038/sj.jid.5700759. Epub 2007 Mar 8. J Invest Dermatol. 2007. PMID: 17344931 Free article.
POLH mutations were identified in 16 Japanese patients, who were diagnosed, both clinically and at a cellular level, as being of the xeroderma pigmentosum variant type (XPV). While all the patients developed skin cancer with an average onset of the can …
POLH mutations were identified in 16 Japanese patients, who were diagnosed, both clinically and at a cellular level, as being of the xero …