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Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Kubota D, et al. Among authors: takahashi h. Ophthalmic Genet. 2019 Oct;40(5):480-487. doi: 10.1080/13816810.2019.1686159. Epub 2019 Nov 7. Ophthalmic Genet. 2019. PMID: 31696758 Free article.
Improved Intravitreal AAV-Mediated Inner Retinal Gene Transduction after Surgical Internal Limiting Membrane Peeling in Cynomolgus Monkeys.
Takahashi K, Igarashi T, Miyake K, Kobayashi M, Yaguchi C, Iijima O, Yamazaki Y, Katakai Y, Miyake N, Kameya S, Shimada T, Takahashi H, Okada T. Takahashi K, et al. Among authors: takahashi h. Mol Ther. 2017 Jan 4;25(1):296-302. doi: 10.1016/j.ymthe.2016.10.008. Epub 2017 Jan 4. Mol Ther. 2017. PMID: 28129123 Free PMC article.
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