Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 2, 2008, Pages 751-757

  Wissinger, Bernd ^a   Dangel, Susann ^a   Jägle, Herbert ^a   Hansen, Lars ^b   Baumann, Britta ^a   Rudolph, Günther ^c   Wolf, Christiane ^a   Bonin, Michael ^d   Koeppen, Katja ^a   Ladewig, Thomas ^a   Kohl, Susanne ^a   Zrenner, Eberhart ^a   Rosenberg, Thomas ^e  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHOSPHODIESTERASE VI; PHOSPHODIESTERASE VIH; POTASSIUM CHANNEL; PROTEIN KCNV2; UNCLASSIFIED DRUG; EYE PROTEIN; KCNV2 PROTEIN, HUMAN; PDE6C PROTEIN, HUMAN; PHOSPHODIESTERASE 6; VOLTAGE GATED POTASSIUM CHANNEL;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE COURSE; DNA SEQUENCE; ELECTRORETINOGRAM; GENE AMPLIFICATION; GENE DELETION; GENE LOCATION; GENE MUTATION; HUMAN; INHERITANCE; NUCLEOTIDE SEQUENCE; OPTICAL TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; UNTRANSLATED REGION; ADOLESCENT; ADULT; CHILD; COLOR VISION DEFECT; COLOR VISION TEST; ELECTRORETINOGRAPHY; FEMALE; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MALE; MIDDLE AGED; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETINA DEGENERATION; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLOR PERCEPTION TESTS; COLOR VISION DEFECTS; CONES (RETINA); CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINAL DEGENERATION; RODS (RETINA); TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS;

EID: 40649085627     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-0471     Document Type: Article

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