Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation

British Journal of Ophthalmology

Volumn 92, Issue 8, 2008, Pages 1086-1091

  Kitiratschky, V B D ^a,b   Nagy, D ^c   Zabel, T ^c   Zrenner, E ^a   Wissinger, B ^a   Kohl, S ^a   Jagle H ^c  

^a Institute for Ophthalmic Research   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL EXAMINATION; CRX GENE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; OPHTHALMOLOGY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOPHYSIOLOGY; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SEGREGATION ANALYSIS;

CONES (RETINA); DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RODS (RETINA); TRANS-ACTIVATORS; VISUAL ACUITY;

EID: 49049096324     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.133231     Document Type: Article

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