Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Cukras, Catherine ^a   Gaasterland, Terry ^b   Lee, Pauline ^c   Gudiseva, Harini V ^d   Chavali, Venkata R M ^d   Pullakhandam, Raghu ^e   Maranhao, Bruno ^d   Edsall, Lee ^b   Soares, Sandra ^b   Reddy, G Bhanuprakash ^e   Sieving, Paul A ^a,f   Ayyagari, Radha ^d  

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e NATIONAL INSTITUTE OF NUTRITION   (India)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PREALBUMIN; RETINOL BINDING PROTEIN 4;

ACNE; ADULT; ARTICLE; CONSANGUINITY; DARK ADAPTATION; DEVELOPMENTAL DISORDER; ELECTRORETINOGRAM; EXOME; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; IRIS COLOBOMA; MALE; OPHTHALMOLOGY; PATENT DUCTUS ARTERIOSUS; PEDIGREE; PHENOTYPE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PROTEIN EXPRESSION; PROTEIN STABILITY; RETINA DEGENERATION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RNA SPLICING; SEQUENCE ANALYSIS; SIBLING; VISUAL ACUITY;

ADULT; BASE SEQUENCE; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; ELECTRORETINOGRAPHY; EXOME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PREALBUMIN; RETINAL DYSTROPHIES; RETINOL-BINDING PROTEINS, PLASMA; VISUAL FIELDS; VITAMIN A;

EID: 84869987611     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0050205     Document Type: Article

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