Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 8, 2003, Pages 3570-3577

  Khani, Shahrokh C ^a   Karoukis, Athanasios J ^b   Young, Joyce E ^a   Ambasudhan, Rajesh ^b   Burch, Tracy ^b   Stockton, Richard ^a   Lewis, Richard Alan ^c   Sullivan, Lori S ^d   Daiger, Stephen P ^d   Reichel, Elias ^e   Ajyagari, Radha ^a,f  

^a UNIVERSITY AT BUFFALO   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CYSTEINE; GENE PRODUCT; PERIPHERIN; TYROSINE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GUCA1A GENE; GUCA1B GENE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RDS GENE; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SUBRETINAL NEOVASCULARIZATION;

AGE OF ONSET; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; CHOROIDAL NEOVASCULARIZATION; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXUDATES AND TRANSUDATES; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HAPLOTYPES; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MALE; MEMBRANE GLYCOPROTEINS; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 0041342080     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-1287     Document Type: Article

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