A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
- Resource Type
- Article
- Authors
- Ishibashi-Ueda, Hatsue; Tomita, Tsutomu; Noguchi, Michio; Takahashi, Ayako; Goto, Yu-ichi; Yoshida, Sumiko; Hattori, Kotaro; Matsumura, Ryo; Iida, Aritoshi; Maruoka, Yutaka; Gatanaga, Hiroyuki; Sugiyama, Masaya; Suzuki, Satoshi; Miyo, Kengo; Matsubara, Yoichi; Umezawa, Akihiro; Hata, Kenichiro; Kaname, Tadashi; Ozaki, Kouichi; Tokuda, Haruhiko; Watanabe, Hiroshi; Niida, Shumpei; Noiri, Eisei; Kitajima, Koji; Omae, Yosuke; Miyahara, Reiko; Shimanuki, Hideyuki; Kawai, Yosuke; Tokunaga, Katsushi; Suga, Akiko; Mizobuchi, Kei; Inooka, Taiga; Yoshitake, Kazutoshi; Minematsu, Naoko; Tsunoda, Kazushige; Kuniyoshi, Kazuki; Hayashi, Takaaki; Ueno, Shinji; Iwata, Takeshi
- Source
- In Genetics in Medicine Open 2024 2
- Subject
- Language
- ISSN
- 2949-7744