Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 6, 2009, Pages 2581-2590

  Hingorani, Melanie ^a,b   Williamson, Kathleen A ^c   Moore, Anthony T ^a,d   van Heyningen, Veronica ^c  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b HINCHINGBROOKE HOSPITAL   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIRIDIA; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXUDATIVE RETINITIS; EYE DISEASE; FEMALE; FOVEAL HYPOPLASIA; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INCIDENCE; IRIS DISEASE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; UNILATERAL EXUDATIVE RETINOPATHY; VISUAL IMPAIRMENT; DNA SEQUENCE; EYE MALFORMATION; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INFANT; MIDDLE AGED; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 66849103748     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2827     Document Type: Article

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