Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

American Journal of Human Genetics

Volumn 98, Issue 5, 2016, Pages 1011-1019

  Vincent, Ajoy ^a,b   Audo, Isabelle ^c,d,e   Tavares, Erika ^a   Maynes, Jason T ^a   Tumber, Anupreet ^a   Wright, Thomas ^a   Li, Shuning ^a   Michiels, Christelle ^c   Condroyer, Christel ^c   MacDonald, Heather ^a,b   Verdet, Robert ^f   Sahel, José Alain ^c,d,e,g,h   Hamel, Christian P ^i,j,k   Zeitz, Christina ^c   Héon, Elise ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c INSERM   (France)

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

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f Eye Center   (France)

^g FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^h Academie des Sciences   (France)

ⁱ HÔPITAL SAINT ELOI   (France)

^j MONTPELLIER UNIVERSITY HOSPITAL   (France)

^k UNIV MONTPELLIER   (France)

more..

Author keywords

congenital stationary; exome; G protein beta 3 subunit; human GNB3; light signal transduction; night blindness; retinal dystrophies

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT 3; TRANSDUCIN; UNCLASSIFIED DRUG; GUANINE NUCLEOTIDE BINDING PROTEIN (G PROTEIN), BETA POLYPEPTIDE 3, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B WAVE; CENTRAL RETINAL THICKNESS; CHROMOSOME 12P; CONGENITAL BLINDNESS; EXOME; EXON; EYE EXAMINATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HIGH MYOPIA; HUMAN; HYDROGEN BOND; HYPERPOLARIZATION; INHERITANCE; INTRACELLULAR SIGNALING; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NONSENSE MUTATION; NYSTAGMUS; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD; ANIMAL; CASE CONTROL STUDY; CHEMISTRY; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; GENETIC DISEASES, X-LINKED; GENETICS; GENOTYPE; HOMOZYGOTE; MALE; MIDDLE AGED; MOUSE; MUTATION; MYOPIA; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; RECESSIVE GENE; SEQUENCE HOMOLOGY;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; GENOTYPE; HETEROTRIMERIC GTP-BINDING PROTEINS; HOMOZYGOTE; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; MYOPIA; NIGHT BLINDNESS; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; VISUAL ACUITY;

EID: 84962643807     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.021     Document Type: Article

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