X-linked cone dystrophy caused by mutation of the red and green cone opsins

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 26-39

  Gardner, Jessica C ^a   Webb, Tom R ^a   Kanuga, Naheed ^a   Robson, Anthony G ^a,b   Holder, Graham E ^a,b   Stockman, Andrew ^a   Ripamonti, Caterina ^a   Ebenezer, Neil D ^a   Ogun, Olufunmilola ^a   Devery, Sophie ^b   Wright, Genevieve A ^b   Maher, Eamonn R ^c   Cheetham, Michael E ^a   Moore, Anthony T ^a,b   Michaelides, Michel ^a,b   Hardcastle, Alison J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; OPSIN; CONE OPSIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLOR BLINDNESS; CONTROLLED STUDY; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MALE; PEDIGREE ANALYSIS; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; VISION TEST; X CHROMOSOME LINKED DISORDER; AMINO ACID SEQUENCE; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN SECONDARY STRUCTURE; RETINA DISEASE; X CHROMOSOME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, X; CONE OPSINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC LOCI; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DISEASES;

EID: 77955064064     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.05.019     Document Type: Article

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