Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 9, 2008, Pages 4105-4114

  Zeitz, Christina ^a,b   Gross, Alecia K ^c   Leifert, Dorothee ^d   Kloeckener Gruissem, Barbara ^a,e   McAlear, Suzanne D ^c   Lemke, Johannes ^f   Neidhardt, John ^a   Berger, Wolfgang ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b INSTITUT DE LA VISION   (France)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d UNIVERSITY HOSPITAL BASEL   (Switzerland)

^e ETH ZURICH   (Switzerland)

^f SWISS EPILEPSY CENTER   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; GUANOSINE 5' O (3 THIOTRIPHOSPHATE); GUANOSINE DIPHOSPHATE; OPSIN; RHODOPSIN; SULFUR 35; TRANSDUCIN; EYE PROTEIN; GNAT1 PROTEIN, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; PDE6B PROTEIN, HUMAN; PHOSPHODIESTERASE 6; RHO FACTOR;

AGED; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATALYSIS; CONGENITAL STATIONARY NIGHT BLINDNESS; CONTROLLED STUDY; CRYSTAL STRUCTURE; DARK ADAPTATION; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; IN VITRO STUDY; ISOTOPE LABELING; LIGHT EXPOSURE; MALE; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NIGHT VISION; NONHUMAN; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PATHOGENESIS; PHOTOPIC VISION; PRIORITY JOURNAL; PROTEIN BINDING; WILD TYPE; ACCLIMATIZATION; DARKNESS; DOMINANT GENE; GENETICS; MUTATION; PEDIGREE; VISUAL FIELD;

ACCLIMATIZATION; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; DARKNESS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; GENES, DOMINANT; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; MALE; MUTATION; NIGHT BLINDNESS; PEDIGREE; RHO FACTOR; RHODOPSIN; VISUAL FIELDS;

EID: 53149135064     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-1717     Document Type: Article

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