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The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.

Autor: Suvannaboon R; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand.; Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand., Tuekprakhon A; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand.; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK., Pawestri AR; Faculty of Medicine, Universitas Brawijaya, Malang, Indonesia., Pongpaksupasin P; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand.; Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Trinavarat A; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand., Atchaneeyasakul LO; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand. atchanee@hotmail.com.

Publikováno v: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 541. Date of Electronic Publication: 2025 Jan 02.