首页> The British journal of ophthalmology> Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.

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第一作者： Junting,Huang

第一单位： Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.

作者： Junting,Huang ^[1] ; Jiewen,Fu ^[2] ; Shangyi,Fu ^[3] ; Lisha,Yang ^[2] ; Kailai,Nie ^[1] ; Chengxia,Duan ^[4] ; Jingliang,Cheng ^[2] ; Yumei,Li ^[5] ; Hongbin,Lv ^[6] ; Rui,Chen ^[7] ; Longqian,Liu ^[8] ; Junjiang,Fu ^[9]

作者单位： Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China. ^[1] Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China. ^[2] The Honors College, University of Houston, Houston, Texas, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[3] Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, China. ^[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[5] Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, China fujunjiang@hotmail.com b.q15651@hotmail.com ruichen@bcm.edu oculistlvhongbin@163.com. ^[6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA fujunjiang@hotmail.com b.q15651@hotmail.com ruichen@bcm.edu oculistlvhongbin@163.com. ^[7] Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China fujunjiang@hotmail.com b.q15651@hotmail.com ruichen@bcm.edu oculistlvhongbin@163.com. ^[8] Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China fujunjiang@hotmail.com b.q15651@hotmail.com ruichen@bcm.edu oculistlvhongbin@163.com. ^[9]

关键词 biochemistry diagnostic tests/investigation genetics vision