Electroretinographic abnormalities in parents of patients with leber congenital amaurosis who have heterozygous GUCY2D mutations

Archives of Ophthalmology

Volumn 120, Issue 10, 2002, Pages 1325-1330

  Koenekoop, Robert K ^a   Fishman, Gerald A ^b   Iannaccone, Alessandro ^c   Ezzeldin, Hany ^d   Ciccarelli, Maria L ^e   Baldi, Alfonso ^f   Sunness, Janet S ^g   Lotery, Andrew J ⁱ   Jablonski, Monica M ^c   Pittler, Steven J ^d   Maumenee, Irene ^h  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

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

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e FATEBENEFRATELLI HOSPITAL   (Italy)

^f REGINA ELENA NATIONAL CANCER INSTITUTE   (Italy)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h JOHNS HOPKINS UNIVERSITY   (United States)

ⁱ UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

A WAVE; ADULT; AIPL1 GENE; AMPLITUDE MODULATION; ARTICLE; B WAVE; CASE REPORT; CHILD; CONTROLLED STUDY; CRB1 GENE; CRX GENE; ELECTRORETINOGRAPHY; EYE MALFORMATION; FEMALE; FUTUROLOGY; GENE IDENTIFICATION; GENE ISOLATION; GENE MUTATION; GENE THERAPY; GENETIC HETEROGENEITY; GENETIC MARKER; GUCY2D GENE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPOTHESIS; LEBER CONGENITAL AMAUROSIS; LRAT GENE; MALE; OPTOMETRY; PERIMETRY; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; RPE65 GENE; RPGRIP1 GENE; SIGNAL DETECTION; TULP1 GENE;

EID: 0036822213     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.120.10.1325     Document Type: Article

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