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Medicine|December 23, 2022
A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case reportKeitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, et al.Journal of Glaucoma|September 21, 2017
Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese PopulationFumihiko Mabuchi, Nakako Mabuchi, Mitsuko Takamoto, et al.Ophthalmic Genetics|January 22, 2015
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, et al.Journal of Ophthalmology|December 9, 2014
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis PigmentosaSatoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, et al.Gene|October 31, 2003
Characterization of AOC2 gene encoding a copper-binding amine oxidase expressed specifically in retinaQiang Zhang, Yukihiko Mashima, Setsuko Noda, et al.Investigative Ophthalmology & Visual Science|August 23, 2016
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod DystrophyAkiko Suga, Atsushi Mizota, Mitsuhiro Kato, et al.Documenta Ophthalmologica. Advances in Ophthalmology|October 18, 2014
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophyKazuki Kuniyoshi, Kazuho Ikeo, Hiroyuki Sakuramoto, et al.Japanese Journal of Ophthalmology|March 28, 2026
Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatusTakuhiro Hayakawa, Kei Mizobuchi, Takaaki Hayashi, et al.Japanese Journal of Ophthalmology|January 19, 2026
Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohortTakeru Tsuboi, Kei Mizobuchi, Kazutoshi Yoshitake, et al.Experimental Animals|June 17, 2003
Molecular cloning of ELOVL4 gene from cynomolgus monkey (Macaca fascicularis)Shinsuke Umeda, Radha Ayyagari, Michihiro T Suzuki, et al.Pageof 19