首页> Human mutation> Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

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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.;Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania.

作者： Csilla H,Lazar ^[1] ; Adva,Kimchi ^[2] ; Prasanthi,Namburi ^[2] ; Mousumi,Mutsuddi ^[3] ; Lina,Zelinger ^[4] ; Avigail,Beryozkin ^[2] ; Shiran,Ben-Simhon ^[2] ; Alexey,Obolensky ^[2] ; Ziva,Ben-Neriah ^[5] ; Zohar,Argov ^[6] ; Eli,Pikarsky ^[7] ; Yakov,Fellig ^[7] ; Devorah,Marks-Ohana ^[2] ; Rinki,Ratnapriya ^[8] ; Eyal,Banin ^[2] ; Dror,Sharon ^[2] ; Anand,Swaroop ^[8]

作者单位： Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.;Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania. ^[1] Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[2] Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. ^[3] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.;Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[4] Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[5] Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[6] Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[7] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland. ^[8]

关键词 ALMS1 DYSF photoreceptor pleiotropic phenotypes retinal degeneration vision loss