The clinical effect of homozygous ABCA4 ALLELES in 18 patients

Ophthalmology

Volumn 120, Issue 11, 2013, Pages 2324-2331

  Fujinami, Kaoru ^a,b,c,d   Sergouniotis, Panagiotis I ^a,b   Davidson, Alice E ^a,b   Mackay, Donna S ^a,b   Tsunoda, Kazushige ^c   Tsubota, Kazuo ^d   Robson, Anthony G ^a,b   Holder, Graham E ^a,b   Moore, Anthony T ^a,b   Michaelides, Michel ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^d KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; ATROPHY; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL GENETICS; COHORT ANALYSIS; COLOR FUNDUS PHOTOGRAPHY; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; DIAGNOSTIC IMAGING EQUIPMENT; DNA SEQUENCE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE PHOTOGRAPHY; FEMALE; FOVEAL ATROPHY; FUNDUS CAMERA; GENE MUTATION; GENE SEGREGATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NULL ALLELE; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RETINA DISEASE; RETINA FOVEA; RETROSPECTIVE STUDY; RNA SPLICING; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84887135603     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.04.016     Document Type: Article

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