A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

Author:

Suga AkikoORCID,Mizobuchi KeiORCID,Inooka Taiga,Yoshitake KazutoshiORCID,Minematsu Naoko,Tsunoda Kazushige,Kuniyoshi KazukiORCID,Kawai YosukeORCID,Omae Yosuke,Tokunaga KatsushiORCID,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,Hayashi TakaakiORCID,Ueno ShinjiORCID,Iwata TakeshiORCID

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

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