Article
Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Proceedings of the National Academy of Sciences of the United States of America - 4 Jul 2023
Senju Chikako, Nakazawa Yuka, Oso Taichi, Shimada Mayuko, Kato Kana, Matsuse Michiko, Tsujimoto Mariko, Masaki Taro, Miyazaki Yasushi, Fukushima Satoshi, Tateishi Satoshi, Utani Atsushi, Murota Hiroyuki, Tanaka Katsumi, Mitsutake Norisato, Moriwaki Shinichi, Nishigori Chikako, Ogi Tomoo
Abstract excerpt
Xeroderma pigmentosum (XP) is a genodermatosis defined by cutaneous photosensitivity with an increased risk of skin tumors because of DNA repair deficiency. The worldwide prevalence of XP is ~1 to 4 in million, with higher incidence in some countries and regions including Japan (1 in 22,000) and North Africa due to founder mutations and a high degree of consanguinity. Among XP, the complementation group F (XP-F),...
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