A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 5, 2009, Pages 2344-2350

  Littink, Karin W ^a,b   van Genderen, Maria M ^c   Collin, Rob W J ^b,d   Roosing, Susanne ^b,d   de Brouwer, Arjan P M ^b,d   Riemslag, Frans C C ^c   Venselaar, Hanka ^d,e   Thiadens, Alberta A H J ^f   Hoyng, Carel B ^e   Rohrschneider, Klaus ^g   den Hollander, Anneke I ^b,d,e   Cremers, Frans P M ^b,d   van den Born, L Ingeborgh ^a  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b Departments of Human Genetics   (United States)

^c Bartimeus Institute for the Visually Impaired   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CALCIUM BINDING PROTEIN; CALCIUM BINDING PROTEIN 4; MESSENGER RNA; RNA; UNCLASSIFIED DRUG; CABP4 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 11Q; CLINICAL FEATURE; COLOR VISION DEFECT; CONGENITAL CONE ROD SYNAPTIC DISORDER; CONGENITAL STATIONARY NIGHT BLINDNESS; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; HOMOZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; MICROARRAY ANALYSIS; NETHERLANDS; NIGHT BLINDNESS; NONSENSE MUTATION; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; PSYCHOPHYSIOLOGY; RETINA CONE; RETINA DISEASE; RETINA ROD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION; CHROMOSOME 11; GENETICS; GENOTYPE; HOMOZYGOTE; PATHOLOGY; PEDIGREE; PERIMETRY; PHOTORECEPTOR CELL; PHOTOSTIMULATION; RETINA DEGENERATION; STOP CODON; SYNAPSE;

CALCIUM-BINDING PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 11; CODON, NONSENSE; ELECTRORETINOGRAPHY; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; NIGHT BLINDNESS; PEDIGREE; PERIMETRY; PHENOTYPE; PHOTIC STIMULATION; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SIBLINGS; SYNAPSES;

EID: 65549105124     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2553     Document Type: Article

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