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choroideremia (67) 67
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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2015, Volume 56, Issue 13, pp. 8158 - 8165
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2009, Volume 4, Issue 12, pp. e8402 - e8402
Background: Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an... 
DRUSEN FORMATION | CELLS | EFFECTORS | EXOCYTOSIS | RPE | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | DYSFUNCTION | MOLECULAR-BASIS | RETINAL-PIGMENT EPITHELIUM | DEGENERATION | Fibroblasts - secretion | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Male | Monocytes - metabolism | Choroideremia - pathology | Gene Expression Profiling | Protein Transport - drug effects | Case-Control Studies | Ovalbumin - metabolism | Young Adult | Monocytes - pathology | Macrolides - pharmacology | Adult | Intercellular Signaling Peptides and Proteins - secretion | Fibroblasts - metabolism | Choroideremia - metabolism | Phagocytosis - drug effects | Intracellular Space - drug effects | Cytokines - secretion | Genotype | Fibroblasts - pathology | Mutation - genetics | Gene Expression Regulation - drug effects | Monocytes - drug effects | Phenotype | Fibroblasts - drug effects | Intracellular Space - metabolism | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Aged | Adaptor Proteins, Signal Transducing - metabolism | Genes | Albumin | Genetic transcription | Macrophages | DNA microarrays | Proteolysis | Collagen | Analysis | Genetic research | Genetic aspects | Fibroblast growth factors | Skin | Ophthalmology | Collagen (type I) | Retinopathy | Pathogenesis | Trafficking | Acidification | Cytotoxicity | pH effects | CD14 antigen | Degradation | Proteins | Genotype & phenotype | Neurodegeneration | Cell adhesion | Fibroblasts | Growth factors | Cytokines | Gene expression | Patients | Mutation | Beads | Transport | Monocyte chemoattractant protein 1 | Guanosinetriphosphatase | Fibroblast growth factor | Animal models | Transcription | Laboratories | Gene regulation | Interleukin | Fluorescence | Lysosomes | Exocytosis | Human populations | E coli | Rodents | Tumor necrosis factor-TNF | Immune system | Ovalbumin | Immune response | Secretion | Information technology | Monocytes | Photoreceptors | Intracellular | Diabetes
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 2/2001, Volume 152, Issue 4, pp. 795 - 808
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 10/2018, Volume 102, Issue 10, pp. 1378 - 1386
AimsWe aimed to accurately diagnose several retinitis pigmentosa (RP) patients with complex ocular phenotypes by combining massive sequencing genetic diagnosis... 
Iris | Choroid | Dystrophy | Diagnostic tests/investigation | Imaging | choroid | diagnostic tests | EXOME SEQUENCING REVEALS | OPHTHALMOLOGY | investigation | CHM |