Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 10, 2011, Pages 7432-7440

  Ali, Manir ^a   Hocking, Paul M ^b   McKibbin, Martin ^a   Finnegan, Sorcha ^c   Shires, Mike ^d   Poulter, James A ^a   Prescott, Katrina ^e   Booth, Adam ^a,f   Raashid, Yasmin ^g   Jafri, Hussain ^h   Ruddle, Jonathan B ⁱ   Mackey, David A ^j   Jacobson, Samuel G ^k   Toomes, Carmel ^a   Lester, Douglas H ^l   Burt, David W ^b   Curry, William J ^c   Inglehearn, Chris F ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^f PENINSULA MEDICAL SCHOOL   (United Kingdom)

^g KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^h Gene Tech Lab 146/1   (Pakistan)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

^j UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l UNIVERSITY OF ABERTAY DUNDEE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHICKEN; CONFOCAL MICROSCOPY; CONGENITAL BLINDNESS; CONTROLLED STUDY; DNA SEQUENCE; EMBRYO; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOLOGY; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MPDZ GENE; NONHUMAN; NULL ALLELE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCREENING; SEX CHROMOSOME; STOP CODON; WESTERN BLOTTING; ALLELE; ANIMAL; DISEASE MODEL; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; MUTATION;

CARRIER PROTEIN; MPDZ PROTEIN, HUMAN;

ALLELES; ANIMALS; BLOTTING, WESTERN; CARRIER PROTEINS; CHICKENS; DISEASE MODELS, ANIMAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENOTYPE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MICROSCOPY, CONFOCAL; MUTATION; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84856393151     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7872     Document Type: Article

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