Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

American Journal of Human Genetics

Volumn 90, Issue 2, 2012, Pages 321-330

  Audo, Isabelle ^a,b,c,d,e   Bujakowska, Kinga ^a,b,c   Orhan, Elise ^a,b,c   Poloschek, Charlotte M ^f   Defoort Dhellemmes, Sabine ^c   Drumare, Isabelle ^c   Kohl, Susanne ^g   Luu, Tien D ^h   Lecompte, Odile ^h   Zrenner, Eberhart ⁱ   Lancelot, Marie Elise ^a,b,c   Antonio, Aline ^a,b,c,d   Germain, Aurore ^a,b,c   Michiels, Christelle ^a,b,c   Audier, Claire ^a,b,c   Letexier, Mélanie ^j   Saraiva, Jean Paul ^j   Leroy, Bart P ^k,l   Munier, Francis L ^m   Mohand Saïd, Saddek ^a,b,c,d   Lorenz, Birgit ⁿ   Friedburg, Christoph ⁿ   Preising, Markus ⁿ   Kellner, Ulrich ^o   Renner, Agnes B ^p   Moskova Doumanova, Veselina ^a,b,c   Berger, Wolfgang ^q,r   Wissinger, Bernd ^g   Hamel, Christian P ^s   Schorderet, Daniel F ^t   De Baere, Elfride ^k   Sharon, Dror ^u   Banin, Eyal ^u   Jacobson, Samuel G ^v   Bonneau, Dominique ^w   Zanlonghi, Xavier ^x   Le Meur, Guylene ^y   Casteels, Ingele ^z   Koenekoop, Robert ^aa   Long, Vernon W ^ab   Meire, Francoise ^ac   Prescott, Katrina ^ad   De Ravel, Thomy ^z   Simmons, Ian ^ab   Nguyen, Hoan ^h   Dollfus, Hélne ^ae,af   Poch, Olivier ^h   Léveillard, Thierry ^a,b,c   Nguyen Ba Charvet, Kim ^a,b,c   Sahel, José Alain ^{a,b,c,d,e,ag,ah}   Bhattacharya, Shomi S ^a,b,c,e,ai   Zeitz, Christina ^a,b,c   more..

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

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

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

ⁱ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^j Parc Scientifique de Luminy   (France)

^k GHENT UNIVERSITY HOSPITAL   (Belgium)

^l GHENT UNIVERSITY   (Belgium)

^m JULES GONIN EYE HOSPITAL   (Switzerland)

ⁿ JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^o Augen Zentrum Siegburg   (Germany)

^p UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^q UNIVERSITY OF ZURICH   (Switzerland)

^r ETH ZURICH   (Switzerland)

^s National Centre for Genetic Sensory Diseases   (France)

^t UNIVERSITY OF LAUSANNE   (Switzerland)

^u HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^v UNIVERSITY OF PENNSYLVANIA   (United States)

^w ANGERS UNIVERSITY HOSPITAL   (France)

^x Clinique Sourdille   (France)

^y HÔTEL DIEU   (France)

^z UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^aa MCGILL UNIVERSITY   (Canada)

^ab ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^ac HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^ad CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^ae UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^af UNIVERSITÉ DE STRASBOURG   (France)

^ag FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^ah Académie des Sciences Institut de France Paris   (France)

^ai CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HISTIDINE; TYROSINE;

ALLELE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 17; CONGENITAL STATIONARY NIGHT BLINDNESS; ELECTRORETINOGRAM; EXOME; EXON; FRAMESHIFT MUTATION; G PROTEIN COUPLED RECEPTOR 179; GENE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOHISTOLOGY; MISSENSE MUTATION; MUELLER CELL; NIGHT BLINDNESS; NONHUMAN; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FOLDING; RETINA; RETINA HORIZONTAL NERVE CELL; WILD TYPE;

ALLELES; ANIMALS; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENETIC HETEROGENEITY; GENOTYPING TECHNIQUES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICE; MUTATION; MYOPIA; NIGHT BLINDNESS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; PROTEOGLYCANS; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, METABOTROPIC GLUTAMATE; RETINA; TRPM CATION CHANNELS;

EID: 84856867776     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.007     Document Type: Article

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