A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
日本人群中常见的一种变异决定了罕见视网膜纤毛病的准孟德尔遗传模式。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-019-10746-4
Nikopoulos, Konstantinos; Cisarova, Katarina; Quinodoz, Mathieu; Koskiniemi-Kuendig, Hanna; Miyake, Noriko; Farinelli, Pietro; Rehman, Atta Ur; Khan, Muhammad Imran; Prunotto, Andrea; Akiyama, Masato; Kamatani, Yoichiro; Terao, Chikashi; Miya, Fuyuki; Ikeda, Yasuhiro; Ueno, Shinji; Fuse, Nobuo; Murakami, Akira; Wada, Yuko; Terasaki, Hiroko; Sonoda, Koh-Hei; Ishibashi, Tatsuro; Kubo, Michiaki; Cremers, Frans P M; Kutalik, Zoltán; Matsumoto, Naomichi; Nishiguchi, Koji M; Nakazawa, Toru; Rivolta, Carlo