Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.-论文-万方医学网

作者： Rachel L,Taylor ^[1] ; Gavin,Arno ^[2] ; James A,Poulter ^[3] ; Kamron N,Khan ^[4] ; Jiten,Morarji ^[5] ; Sarah,Hull ^[6] ; Nikolas,Pontikos ^[7] ; Antonio,Rueda Martin ^[8] ; Katherine R,Smith ^[8] ; Manir,Ali ^[3] ; Carmel,Toomes ^[3] ; Martin,McKibbin ^[4] ; Jill,Clayton-Smith ^[1] ; Stephanie,Grunewald ^[9] ; Michel,Michaelides ^[6] ; Anthony T,Moore ^[10] ; Alison J,Hardcastle ^[6] ; Chris F,Inglehearn ^[3] ; Andrew R,Webster ^[6] ; Graeme C,Black ^[1] ; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project

作者单位： Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England. ^[1] UCL Institute of Ophthalmology, University College London, London, England. ^[2] Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England. ^[3] Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England 5Department of Ophthalmology, St. James's University Hospital, Leeds, England. ^[4] Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, England. ^[5] UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England. ^[6] UCL Genetics Institute, University College London, London, England. ^[7] Genomics England, Queen Mary University of London, London, England. ^[8] Metabolic Unit, Great Ormond Street Hospital, London, England11Institute for Child Health, University College London, London, England. ^[9] UCL Institute of Ophthalmology, University College London, London, England 12Department of Ophthalmology, University of California, San Francisco, Medical School, San Francisco. ^[10]

主题词 3-羰基-5-α-类固醇4-脱氢酶(3-Oxo-5-alpha-Steroid 4-Dehydrogenase);青少年(Adolescent);先天性糖基化病(Congenital Disorders of Glycosylation);DNA突变分析(DNA Mutational Analysis);视网膜电描记术(Electroretinography);女(雌)性(Female);荧光素血管造影术(Fluorescein Angiography);基因组(Genome);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变(Mutation);系谱(Pedigree);表型(Phenotype);视网膜营养不良(Retinal Dystrophies);序列分析, DNA(Sequence Analysis, DNA);视觉障碍(Vision Disorders);视敏度(Visual Acuity);视野测试(Visual Field Tests);视野(Visual Fields);青年人(Young Adult)

DOI 10.1001/jamaophthalmol.2017.0046

PMID 28253385

发布时间 2021-03-17

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Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA ophthalmology

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JAMA ophthalmology

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Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA ophthalmology

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JAMA ophthalmology

相关期刊

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