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Molecular Vision, ISSN 1090-0535, 2011, Volume 17, Issue 140, pp. 1249 - 1253
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 321 - 329
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 35, pp. 15523 - 15528
Retinal degenerative diseases, such as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untreatable blindness with substantive... 
Phenotypes | Exons | Retinitis pigmentosa | Genes | Retinal degeneration | Photoreceptors | Lipids | Retina | Genetic mutation | Retinal diseases | Lipid enzyme | Visual dysfunction | Gene discovery | Phospholipid remodeling | visual dysfunction | VISUAL CYCLE | retinal degeneration | CGMP-PHOSPHODIESTERASE | phospholipid remodeling | MULTIDISCIPLINARY SCIENCES | DISK MEMBRANES | MACULAR DEGENERATION | LEBER CONGENITAL AMAUROSIS | gene discovery | DOCOSAHEXAENOIC ACID | lipid enzyme | RETINITIS-PIGMENTOSA | BETA-SUBUNIT | SPATIAL-DISTRIBUTION | Humans | Immunoblotting | Photoreceptor Cells, Vertebrate - chemistry | Chromatography, High Pressure Liquid | Retinal Degeneration - metabolism | DNA Mutational Analysis | Mice, Mutant Strains | Base Sequence | Mice, Inbred DBA | Phosphatidylcholines - analysis | Microscopy, Electron, Transmission | Photoreceptor Cells, Vertebrate - ultrastructure | 1-Acylglycerophosphocholine O-Acyltransferase - genetics | Retinal Degeneration - genetics | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Chromosome Mapping | Leber Congenital Amaurosis - genetics | Mice, Inbred Strains | Reverse Transcriptase Polymerase Chain Reaction | Mice, Inbred C3H | Blotting, Northern | Animals | Mice | Mice, Inbred BALB C | Lipids - analysis | Photoreceptor Cells, Vertebrate - metabolism | Retinal Degeneration - pathology | 1-Acylglycerophosphocholine O-Acyltransferase - metabolism | Composition | Genetic aspects | Health aspects | Transferases | Blindness | Macular degeneration | Enzymes | Rodents | Homeostasis | Mutation | Chromosomes | Index Medicus | Biological Sciences
Journal Article
BMC Medical Genomics, ISSN 1755-8794, 03/2016, Volume 9, Issue 1, pp. 15 - 15
Background: Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of... 
GEO | GWA | HTM | POAG | SNP | LD | IOP | MPP7 | ABCA1 | COMMON VARIANTS | COMPLEX | NUMBER | METAANALYSIS | POLARITY | INTRAOCULAR-PRESSURE | GENETICS & HEREDITY | EXPRESSION | GENOME-WIDE ASSOCIATION | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/2014, Volume 23, Issue 21, pp. 5827 - 5837
Journal Article
Journal Article