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JAMA Ophthalmology, ISSN 2168-6165, 04/2017, Volume 135, Issue 4, p. 339
Importance Steroid 5a-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is... 
Genes | Myopia | Retina | Steroid 5α-reductase | Glycosylation | Genomes | Nyctalopia | Minority & ethnic groups | Acuity | Eye | Genotype & phenotype | DNA microarrays | Phenotyping | Nystagmus | Retinal degeneration | Mutation | Children | Dystrophy | Ophthalmology | Gene mapping | Age | Steroids | Reductase
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Humans | Cercopithecus aethiops | Molecular Sequence Data | Family Health | Male | Gene Expression Profiling | Zebrafish - embryology | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Cell Nucleus - metabolism | DNA Mutational Analysis | Female | Retinal Vessels - embryology | Amino Acid Sequence | Retinal Vessels - metabolism | Animals, Genetically Modified | Zebrafish Proteins - metabolism | Vitreoretinopathy, Proliferative - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Vitreoretinopathy, Proliferative - metabolism | Zebrafish - genetics | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Vitreoretinopathy, Proliferative - genetics | Animals | Pedigree | Zebrafish - metabolism | Luminescent Proteins - genetics | Mutation | Zebrafish Proteins - genetics | COS Cells | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Retina | Zebrafish | Kinases | Cells | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1035 - 1039
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 727 - 739
Journal Article
Journal Article