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Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.

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Title: Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.
Authors: Muto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.; Medical Studies, School of Medicine, College of Health, Adelaide University, Adelaide, South Australia, Australia., Sajiki AF; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.; Division for Advanced Medical Research, Center for Research of Laboratory Animals and Medical Research Engineering, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Kimura Y; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Ota J; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Ushida H; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Yamada K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Nishiguchi KM; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan., Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8560, Japan. taro.kominami@gmail.com.
Source: Scientific reports [Sci Rep] 2026 Apr 03; Vol. 16 (1). Date of Electronic Publication: 2026 Apr 03.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
Description
ISSN:2045-2322
DOI:10.1038/s41598-026-46464-3