Leber congenital amaurosis associated with AIPL1: Challenges in ascribing disease causation, clinical findings, and implications for gene therapy

PLoS ONE

Volumn 7, Issue 3, 2012, Pages

  Tan, Mei Hong ^a,b   Mackay, Donna S ^a   Cowing, Jill ^a   Tran, Hoai Viet ^a,b   Smith, Alexander J ^a   Wright, Genevieve A ^b   Dev Borman, Arundhati ^a,b   Henderson, Robert H ^a,b   Moradi, Phillip ^a,b   Russell Eggitt, Isabelle ^c   MacLaren, Robert E ^b,d   Robson, Anthony G ^a,b   Cheetham, Michael E ^a   Thompson, Dorothy A ^c   Webster, Andrew R ^a,b   Michaelides, Michel ^a,b   Ali, Robin R ^a   Moore, Anthony T ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; AROMATIC HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; BINDING PROTEIN; GENOMIC DNA; LEUCINE; UNCLASSIFIED DRUG; AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN; EYE PROTEIN;

ADOLESCENT; ADULT; AIPL1 GENE; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER MODEL; DISEASE SEVERITY; DNA DETERMINATION; ELECTRORETINOGRAPHY; GENE; GENE SEGREGATION; GENE SEQUENCE; GENE THERAPY; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOGENICITY; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PREVALENCE; RETINA CONE; RETINA MACULOPATHY; RETINA ROD; SEQUENCE ANALYSIS; VISUAL IMPAIRMENT; CASE CONTROL STUDY; FLUORESCENCE ANGIOGRAPHY; GENE EXPRESSION PROFILING; GENETICS; MUTATION; RNA SPLICING;

ADOLESCENT; ADULT; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; EYE PROTEINS; FLUORESCEIN ANGIOGRAPHY; GENE EXPRESSION PROFILING; GENE THERAPY; HUMANS; LEBER CONGENITAL AMAUROSIS; MUTATION; RNA SPLICE SITES; YOUNG ADULT;

EID: 84863299114     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032330     Document Type: Article

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