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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
Authors:Csilla H. Lazar  Adva Kimchi  Prasanthi Namburi  Mousumi Mutsuddi  Lina Zelinger  Avigail Beryozkin  Shiran Ben‐Simhon  Alexey Obolensky  Ziva Ben‐Neriah  Zohar Argov  Eli Pikarsky  Yakov Fellig  Devorah Marks‐Ohana  Rinki Ratnapriya  Eyal Banin  Dror Sharon  Anand Swaroop
Affiliation:1. Neurobiology‐Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland;2. Molecular Biology Center, Interdisciplinary Research Institute on Bio‐Nano Sciences, Babes‐Bolyai‐University, Cluj‐Napoca, Romania;3. Department of Ophthalmology, Hadassah‐Hebrew University Medical Center, Jerusalem, Israel;4. Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India;5. Department of Genetics, Hadassah‐Hebrew University Medical Center, Jerusalem, Israel;6. Department of Neurology, Hadassah‐Hebrew University Medical Center, Jerusalem, Israel;7. Department of Pathology, Hadassah‐Hebrew University Medical Center, Jerusalem, Israel
Abstract:
Keywords:ALMS1  DYSF  retinal degeneration  pleiotropic phenotypes  photoreceptor  vision loss
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