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Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Senju C, Nakazawa Y, Oso T, Shimada M, Kato K, Matsuse M, Tsujimoto M, Masaki T, Miyazaki Y, Fukushima S, Tateishi S, Utani A, Murota H, Tanaka K, Mitsutake N, Moriwaki S, Nishigori C, Ogi T. Senju C, et al. Among authors: utani a. Proc Natl Acad Sci U S A. 2023 Jul 4;120(27):e2217423120. doi: 10.1073/pnas.2217423120. Epub 2023 Jun 26. Proc Natl Acad Sci U S A. 2023. PMID: 37364129 Free PMC article.
Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.
Iwanaga A, Utani A, Koike Y, Okubo Y, Kuwatsuka Y, Endo Y, Tanizaki H, Wataya-Kaneda M, Hatamochi A, Minaga K, Ogi T, Yamamoto Y, Ikeda S, Tsuiki E, Tamura H, Maemura K, Kitaoka T, Murota H. Iwanaga A, et al. Among authors: utani a. J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12. J Dermatol. 2022. PMID: 35019155
179 results