IQCB1 mutations in patients with leber congenital amaurosis

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 2, 2011, Pages 834-839

  Estrada Cuzcano, Alejandro ^a,b   Koenekoop, Robert K ^c   Coppieters, Frauke ^d   Kohl, Susanne ^e   Lopez, Irma ^c   Collin, Rob W J ^a,b   de Baere, Elfride B W ^d   Roeleveld, Debbie ^a   Marek, Jonah ^c   Bernd, Antje ^e   Rohrschneider, Klaus ^f   Ingeborgh van den Born, L ^g   Meire, Fraņcoise ^h   Maumenee, Irene H ⁱ   Jacobson, Samuel G ^j   Hoyng, Carel B ^a   Zrenner, Eberhart ^e   Cremers, Frans P M ^a   den Hollander, Anneke I ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g ROTTERDAM EYE HOSPITAL   (Netherlands)

^h HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

ⁱ UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 3; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DNA MICROARRAY; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; IQCB 1 GENE; KIDNEY DISEASE; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN INTERACTION; RETINA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; CHILD; FEMALE; FRAMESHIFT MUTATION; GENETICS; HEREDITARY OPTIC ATROPHY; KIDNEY POLYCYSTIC DISEASE; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SENIOR LOKEN SYNDROME; STOP CODON;

CALMODULIN BINDING PROTEIN; IQCB1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; CALMODULIN-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; KIDNEY DISEASES, CYSTIC; LEBER CONGENITAL AMAUROSIS; MALE; MIDDLE AGED; OPTIC ATROPHIES, HEREDITARY; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79953279282     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5221     Document Type: Article

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