An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

British Journal of Ophthalmology

Volumn 89, Issue 8, 2005, Pages 1065-1066

  Chavala, S H ^a   Sari, A ^a   Lewis, H ^a   Pauer, G J T ^a   Simpson, E ^a   Hagstrom, S A ^a   Traboulsi, E I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VISUAL PIGMENT;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CONSANGUINITY; DNA EXTRACTION; ELECTRORETINOGRAM; EXON; FLUORESCENCE ANGIOGRAPHY; GENE; GENE MUTATION; GOLDMANN FAVRE SYNDROME; HUMAN; MOLECULAR GENETICS; NR2E3 GENE; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING; VISUAL ACUITY; VITREORETINOPATHY;

EYE DISEASES, HEREDITARY; HUMANS; POINT MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 23144443307     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.068130     Document Type: Article

References (14)

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