首页> Investigative ophthalmology & visual science> Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

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第一作者： Csilla H,Lazar

第一单位： Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania.

作者： Csilla H,Lazar ^[1] ; Mousumi,Mutsuddi ^[2] ; Adva,Kimchi ^[3] ; Lina,Zelinger ^[4] ; Liliana,Mizrahi-Meissonnier ^[3] ; Devorah,Marks-Ohana ^[3] ; Alexis,Boleda ^[5] ; Rinki,Ratnapriya ^[5] ; Dror,Sharon ^[3] ; Anand,Swaroop ^[5] ; Eyal,Banin ^[4]

作者单位： Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania. ^[1] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. ^[2] Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[3] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[4] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States. ^[5]

关键词 inherited blindness next generation sequencing photoreceptor degeneration