Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

British Journal of Ophthalmology

Volumn 95, Issue 6, 2011, Pages 811-817

  Henderson, Robert H ^a,b,c   Mackay, Donna S ^b   Li, Zheng ^b   Moradi, Phillip ^a,b,c   Sergouniotis, Panagiotis ^a,b   Russell Eggitt, Isabelle ^c   Thompson, Dorothy A ^c   Robson, Anthony G ^a,b   Holder, Graham E ^a,b   Webster, Andrew R ^a,b   Moore, Anthony T ^a,b,c  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CRUMBS HOMOLOG 1 PROTEIN; RECEPTOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; BLOOD SAMPLING; CHILD; CLINICAL EXAMINATION; CLOSED ANGLE GLAUCOMA; CONTROLLED STUDY; CRUMBS HOMOLOG 1 GENE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EYE PHOTOGRAPHY; EYE REFRACTION; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; REFRACTION ERROR; RETINA DYSTROPHY; RETINAL TELANGIECTASIA; RETINITIS PIGMENTOSA; SCHOOL CHILD; SLIT LAMP; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC VARIATION; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PROGNOSIS; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA; VISUAL ACUITY; YOUNG ADULT;

EID: 79956344173     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2010.186882     Document Type: Article

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