Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 8, 2012, Pages 4458-4467

  Burke, Tomas R ^a   Fishman, Gerald A ^b   Zernant, Jana ^a   Schubert, Carl ^a   Tsang, Stephen H ^a   Theodore Smith, R ^a,c   Ayyagari, Radha ^d   Koenekoop, Robert K ^e   Umfress, Allison ^f,k   Ciccarelli, Maria Laura ^g   Baldi, Alfonso ^h   Iannaccone, Alessandro ^f   Frans, P M Cremers ⁱ   Caroline, C W Klaver ^j   Allikmets, Rando ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b Pangere Center for Hereditary Retinal Diseases   (United States)

^c University of California San Diego ^*  (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^f UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^g Israelitic Hospital   (Italy)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j ERASMUS MEDICAL CENTER   (Netherlands)

^k ROYAL BERKSHIRE NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ADOLESCENT; ADULT; AGED; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; EYE FUNDUS; EYE PHOTOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA; RETINA FLUORESCEIN ANGIOGRAPHY; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STARGARDT DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HOMOZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION, MISSENSE; OPEN READING FRAMES; PEDIGREE; PHENOTYPE; RETINA; RETINAL DISEASES; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

EID: 84863773758     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-9166     Document Type: Article

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