Homozygosity mapping in patients with cone-rod dystrophy: Novel mutations and clinical characterizations

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 11, 2010, Pages 5943-5951

  Littink, Karin W ^a,b   Koenekoop, Robert K ^b,c   Ingeborgh van den Born, L ^a   Collin, Rob W J ^b,d   Moruz, Luminita ^b,e   Veltman, Joris A ^b,f   Roosing, Susanne ^b   Zonneveld, Marijke N ^a,b   Omar, Amer ^c   Darvish, Mahshad ^c   Lopez, Irma ^c   Kroes, Hester Y ^f   van Genderen, Maria M ^g   Hoyng, Carel B ^b   Rohrschneider, Klaus ^h   van Schooneveld, Mary J ^i,j   Cremers, Frans P M ^b,d   den Hollander, Anneke I ^b,d  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MCGILL UNIVERSITY   (Canada)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e STOCKHOLM UNIVERSITY   (Sweden)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g Bartiméus Institute for the Visually Impaired   (Netherlands)

^h UNIVERSITY OF HEIDELBERG   (Germany)

ⁱ NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^j ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER;

ABCA4 GENE; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CABP4 GENE; CERKL GENE; CHILD; COLOR VISION; CONSANGUINITY; EYS GENE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; KCNV2 GENE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROM1 GENE; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

ADOLESCENT; AMINO ACID SEQUENCE; ANTIGENS, CD; ATP-BINDING CASSETTE TRANSPORTERS; CALCIUM-BINDING PROTEINS; CHILD; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GLYCOPROTEINS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPHTHALMOSCOPY; PEPTIDES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 79955944090     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5797     Document Type: Article

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