Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1354-1362

  Gardner, Jessica C ^a   Liew, Gerald ^b   Quan, Ying Hua ^a   Ermetal, Burcu ^a   Ueyama, Hisao ^c   Davidson, Alice E ^a   Schwarz, Nele ^a   Kanuga, Naheed ^a   Chana, Ravinder ^b   Maher, Eamonn R ^d,e   Webster, Andrew R ^a,b   Holder, Graham E ^a,b   Robson, Anthony G ^a,b   Cheetham, Michael E ^a   Liebelt, Jan ^f   Ruddle, Jonathan B ^g,h   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 SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^d UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

Blue cone monochromacy; Cone dystrophy; OPN1LW; OPN1MW; Opsin; Splicing

Indexed keywords

CONE OPSIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR BLINDNESS; CONE DYSTROPHY; DISEASE COURSE; EXON; GENE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; HYBRID GENE; MALE; MISSENSE MUTATION; MYOPIA; NYSTAGMUS; REGULATOR GENE; RETINA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL DISORDER; AMINO ACID SUBSTITUTION; GENE DELETION; GENE ORDER; GENE SILENCING; GENETIC ASSOCIATION; GENETIC DISEASES, X-LINKED; GENETICS; GENOTYPE; HEMIZYGOTE; MIDDLE AGED; MUTATION; OPHTHALMOSCOPE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RETINITIS PIGMENTOSA; RNA SPLICING; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CONE OPSINS; GENE ORDER; GENE SILENCING; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENOTYPE; HAPLOTYPES; HEMIZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; OPHTHALMOSCOPES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; RNA SPLICING; SEQUENCE DELETION; YOUNG ADULT;

EID: 84917734138     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22679     Document Type: Article

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