Whole-exome sequencing identifies kiz as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

American Journal of Human Genetics

Volumn 94, Issue 4, 2014, Pages 625-633

  El Shamieh, Said ^a,b,c   Neuillé, Marion ^a,b,c   Terray, Angélique ^a,b,c   Orhan, Elise ^a,b,c   Condroyer, Christel ^a,b,c   Démontant, Vanessa ^a,b,c   Michiels, Christelle ^a,b,c   Antonio, Aline ^a,b,c   Boyard, Fiona ^a,b,c   Lancelot, Marie Elise ^a,b,c   Letexier, Mélanie ^d   Saraiva, Jean Paul ^d   Léveillard, Thierry ^a,b,c   Mohand Saïd, Saddek ^a,b,c,e   Goureau, Olivier ^a,b,c   Sahel, José Alain ^{a,b,c,e,f,g,h}   Zeitz, Christina ^a,b,c   Audo, Isabelle ^a,b,c,e,h  

^a INSERM   (France)

^b CNRS   (France)

^c INSTITUT DE LA VISION   (France)

^d Parc Scientifique de Luminy   (France)

^e CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^f FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^g Academie des Sciences   (France)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GLUTAMIC ACID; ISOLEUCINE; LYSINE; MESSENGER RNA; PROTEIN KIZUNA; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTROSOME; CONSANGUINITY; EXOME; FIBROBLAST; GENE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOLOGY; KIZ GENE; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PLK1S1 GENE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RD1 GENE; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSCRIPTOMICS;

MUS;

ANIMALS; CELL CYCLE PROTEINS; CODON, NONSENSE; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICE; PEDIGREE; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; TRANSCRIPTOME;

EID: 84897976595     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.03.005     Document Type: Article

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