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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: wada y. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.
Macular degeneration in a Japanese patient with aceruloplasminemia.
Itabashi T, Wada Y, Tada A, Sukegawa M, Imai E, Sato H, Abe T, Nishida K. Itabashi T, et al. Among authors: wada y. Retin Cases Brief Rep. 2007 Fall;1(4):264-6. doi: 10.1097/01.iae.0000243414.20476.f9. Retin Cases Brief Rep. 2007. PMID: 25390998
3,741 results