Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

Archives of Ophthalmology

Volumn 121, Issue 9, 2003, Pages 1316-1323

  Sharon, Dror ^a,c   Sandberg, Michael A ^a   Caruso, Rafael C ^b   Berson, Eliot L ^a   Dryja, Thaddeus P ^a,d  

^a HARVARD MEDICAL SCHOOL   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLUTAMINE; PROLINE; CELL RECEPTOR; NR2E3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAM; ENHANCED S CONE SYNDROME; EVALUATION; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GOLDMANN FAVRE SYNDROME; HOMOZYGOTE; HUMAN; HYPERMETROPIA; MISSENSE MUTATION; MUTATION; MUTATOR GENE; NIGHT BLINDNESS; NULL ALLELE; PRIORITY JOURNAL; REFRACTION ERROR; RETINA BLOOD VESSEL OCCLUSION; RETINA PIGMENT DEGENERATION; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD; DNA SEQUENCE; ELECTRORETINOGRAPHY; EYE DISEASE; FEMALE; GENETICS; MALE; MIDDLE AGED; PEDIGREE; RETINA DEGENERATION; SYNDROME;

ADOLESCENT; ADULT; CHILD; DARK ADAPTATION; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPEROPIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS; VISUAL ACUITY; VISUAL FIELDS;

EID: 0141722455     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.9.1316     Document Type: Article

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