Cone structure in patients with Usher syndrome type III and mutations in the Clarin 1 gene

Archives of Ophthalmology

Volumn 131, Issue 1, 2013, Pages 67-74

  Ratnam, Kavitha ^a   Vas̈tinsalo, Hanna ^b,c   Roorda, Austin ^f   Sankila, Eeva Marja K ^b,d,e   Duncan, Jacque L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

CLARIN 1 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; CLRN1 PROTEIN, HUMAN; CLARIN 1; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BEST CORRECTED VISUAL ACUITY; CLINICAL ARTICLE; FEMALE; FOVEAVIRUS; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; OPHTHALMOSCOPY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; SCOTOMA; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; USHER SYNDROME; USHER SYNDROME TYPE III; VISION; VISUAL ACUITY; GENETIC ASSOCIATION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PERIMETRY; PHYSIOLOGY; RETINA CONE; RETINA DISEASE; VISUAL FIELD; CASE REPORT; ELECTRORETINOGRAPHY; HETEROZYGOSITY; IMAGE QUALITY; RETINA FOVEA; SCANNING LASER OPHTHALMOSCOPY;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; OPHTHALMOSCOPY; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM; SCOTOMA; TOMOGRAPHY, OPTICAL COHERENCE; USHER SYNDROMES; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

MLCS; MLOWN;

EID: 84872331404     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/2013.jamaophthalmol.2     Document Type: Article

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