Mutations in <i>NSUN3</i>, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

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第一作者： Cansu,de Muijnck

第一单位： Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

作者： Cansu,de Muijnck ^[1] ; Jacoline B Ten,Brink ^[2] ; Hugoline G,de Haan ^[3] ; Richard J,Rodenburg ^[4] ; Nicole I,Wolf ^[5] ; Arthur A,Bergen ^[6] ; Camiel J F,Boon ^[7] ; Maria M,van Genderen ^[3]

作者单位： Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. ^[1] Department of Ophthalmology, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands. ^[2] Department of Human Genetics, Section Ophthalmogenetics, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands. ^[3] Department of Human Genetics, Amsterdam University Medical Centers, Location VU, 1081 HV Amsterdam, The Netherlands. ^[4] Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, 1105 AZ Amsterdam, The Netherlands. ^[5] Radboud Center for Mitochondrial Medicine, Departments of Pediatrics and Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. ^[6] Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Location VU, 1105 AZ Amsterdam, The Netherlands. ^[7] Emma Centre for Precision Medicine, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands. ^[8] Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. ^[9] Bartiméus Diagnostic Center for Complex Visual Disorders, 3703 AJ Zeist, The Netherlands. ^[10]

关键词 NSUN3 inherited optic neuropathy optic atrophy