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Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma

AIM: To report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance. METHODS: Ten family members from three generations participated in this study and received the thorough ophthalmologic examination. Focused exome sequen...

詳細記述

保存先:
書誌詳細
出版年:Int J Ophthalmol
主要な著者: Moon, Sangwoo, Kim, Namhee, Lee, Jiwoong
フォーマット: Artigo
言語:Inglês
出版事項: International Journal of Ophthalmology Press 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7590875/
https://ncbi.nlm.nih.gov/pubmed/33214997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2020.11.02
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