Recessive retinopathy consequent on mutant g-protein β subunit 3 (GNB3)

JAMA Ophthalmology

Volumn 134, Issue 8, 2016, Pages 924-927

  Arno, Gavin ^a,b   Holder, Graham E ^a,b   Chakarova, Christina ^a,b   Kohl, Susanne ^c   Pontikos, Nikolas ^d   Fiorentino, Alessia ^a,b   Plagnol, Vincent ^d   Cheetham, Michael E ^a,b   Hardcastle, Alison J ^a,b   Webster, Andrew R ^a,b   Michaelides, Michel ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT 3; MESSENGER RNA; UNCLASSIFIED DRUG; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN (G PROTEIN), BETA POLYPEPTIDE 3, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; STOP CODON;

ARTICLE; AUTOFLUORESCENCE IMAGING; BEST CORRECTED VISUAL ACUITY; CASE REPORT; CHILD; CODON; CONSENSUS SEQUENCE; CONVERGENT STRABISMUS; ELECTRORETINOGRAPHY; EXOME; EXON; EYE PHOTOGRAPHY; GENE FREQUENCY; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; NYSTAGMUS; PERIMETRY; PRIORITY JOURNAL; REFRACTION ERROR; RETINOPATHY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; METABOLISM; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; RECESSIVE GENE; RETINA; RETINAL DISEASES; STOP CODON;

CHILD; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; GENES, RECESSIVE; GENOTYPE; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; MALE; PEDIGREE; RETINA; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84998780458     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2016.1543     Document Type: Article

References (10)

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