Choroideremia: Analysis of the retina from a female symptomatic carrier

Ophthalmic Genetics

Volumn 29, Issue 3, 2008, Pages 99-110

  Bonilha, Vera L ^a   Trzupek, Karmen M ^b   Li, Yong ^a   Francis, Peter J ^b   Hollyfield, Joe G ^a   Rayborn, Mary E ^a   Smaoui, Nizar ^c   Weleber, Richard G ^b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

Author keywords

Carrier state; Choroideremia; Cone opsins; Immunohistochemistry; Rhodopsin

Indexed keywords

OPSIN; PROTEIN ANTIBODY; RHODOPSIN;

AMINO ACID SEQUENCE; ARTICLE; BRUCH MEMBRANE; CELL MEMBRANE; CHOROIDEREMIA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA DEGENERATION; SYMPTOM; TRANSMISSION ELECTRON MICROSCOPY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; CARRIER STATE; CHOROIDEREMIA; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; INTRONS; MALE; MICROSCOPY, CONFOCAL; MUTATION; OPSIN; PEDIGREE; PIGMENT EPITHELIUM OF EYE; RETINA; RHODOPSIN; RNA SPLICE SITES;

EID: 50949166611     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802206499     Document Type: Article

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