title: Genetic analysis of RPE65: from human disease to mouse model.
authors.affiliation: Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: T M
authors.initials: TM
authors.lastname: Redmond
authors.forename: C P
authors.initials: CP
authors.lastname: Hamel
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins; D017931:DNA Primers; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase