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: oso t.
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.