Article
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
The Journal of investigative dermatology - 1 Jul 2007
Tanioka Miki, Masaki Taro, Ono Ryusuke, Nagano Tohru, Otoshi-Honda Eriko, Matsumura Yasuhiro, Takigawa Masahiro, Inui Hiroki, Miyachi Yoshiki, Moriwaki Shinichi, Nishigori Chikako
Abstract excerpt
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 cancer at 45 years, in non-XP Japanese the onset was at over 70 years. All the cell strains from the patients were normal or slightly hypersensitive to UV and most of...
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