Genetic testing and clinical characterization of patients with cone-rod dystrophy.
Alberta A H J
AA
Thiadens
Caroline C W
CC
Klaver
D000071916:AC133 Antigen; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D015703:Antigens, CD / Q000235:genetics*; D002874:Chromosome Mapping; D003241:Consanguinity; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010455:Peptides / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence
C056475:ABCA4 protein, human; D000071916:AC133 Antigen; D018528:ATP-Binding Cassette Transporters; D015703:Antigens, CD; C533105:EYS protein, human; D005136:Eye Proteins; D006023:Glycoproteins; D010455:Peptides; D024642:Potassium Channels, Voltage-Gated; D017853:Phosphotransferases (Alcohol Group Acceptor); C066324:ceramide kinase