Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

Human Mutation

Volumn 25, Issue 3, 2005, Pages 248-258

  Nishiguchi, Koji M ^a   Sandberg, Michael A ^a   Gorji, Nasim ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Achromatopsia; CNGA3; CNGB3; Color blindness; Genotype phenotype; GNAT2; Macular degeneration; Photoreceptor

Indexed keywords

CYCLIC GMP;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CHANNEL GATING; COLOR BLINDNESS; COLOR VISION; CONTROLLED STUDY; DNA SEQUENCE; ELECTRORETINOGRAM; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA FOVEA; RETINA MACULA DEGENERATION; RETINA ROD; VISUAL ACUITY;

ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CODON, NONSENSE; COLOR VISION DEFECTS; CONES (RETINA); CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENOTYPE; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; ION CHANNELS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; RETINAL DEGENERATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS);

EID: 14944385597     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20142     Document Type: Article

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