Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum

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 Nor...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318981/
https://www.ncbi.nlm.nih.gov/pubmed/37364129
http://dx.doi.org/10.1073/pnas.2217423120

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