Variations in opsin coding sequences cause X-linked cone dysfunction syndrome with myopia and dichromacy

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 2, 2013, Pages 1361-1369

  McClements, Michelle ^a,b   Davies, Wayne I L ^b,c   Michaelides, Michel ^a,d   Young, Terri ^e   Neitz, Maureen ^f   MacLaren, Robert E ^b,d   Moore, Anthony T ^a,d   Hunt, David M ^a,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OPSIN; PROTEIN VARIANT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BORNHOLM EYE DISEASE; CELL MIGRATION; COLOR VISION DEFECT; CONFOCAL MICROSCOPY; CONTROLLED STUDY; EXON; EYE DISEASE; GENE EXPRESSION; GENE ORDER; GENE SEQUENCE; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; MOUSE; MYOPIA; NONHUMAN; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ULTRAVIOLET SPECTROPHOTOMETRY; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; COLOR VISION DEFECTS; DNA; ELECTRORETINOGRAPHY; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MYOPIA; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL CONE PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; ROD OPSINS; SYNDROME; YOUNG ADULT;

EID: 84874998310     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11156     Document Type: Article

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