Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.

导出 OA

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第一作者： Xiying,Mao

第一单位： Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.

作者： Xiying,Mao ^[1] ; Mingkang,Chen ^[1] ; Yan,Yu ^[1] ; Qinghuai,Liu ^[1] ; Songtao,Yuan ^[1] ; Wen,Fan ^[2]

作者单位： Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. ^[1] Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. fanwen@njmu.edu.cn. ^[2]

关键词 Case report GPR143 mutation Isolated foveal hypoplasia OA1

主题词中国(China);眼蛋白质类(Eye Proteins);人类(Humans);膜糖蛋白类(Membrane Glycoproteins);突变(Mutation);系谱(Pedigree)

DOI 10.1186/s12886-021-01905-7

PMID 33785018

发布时间 2022-05-31

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交