Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 6, 2012, Pages 2873-2879

  Poulter, James A ^a   Davidson, Alice E ^b   Ali, Manir ^a   Gilmour, David F ^a,f   Parry, David A ^a   Mintz Hittner, Helen A ^c   Carr, Ian M ^a   Bottomley, Helen M ^a   Long, Vernon W ^a   Downey, Louise M ^a,d   Sergouniotis, Panagiotis I ^e   Wright, Genevieve A ^e   MacLaren, Robert E ^b,e   Moore, Anthony T ^b,e   Webster, Andrew R ^b,e   Inglehearn, Chris F ^a   Toomes, Carmel ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d HULL ROYAL INFIRMARY   (United Kingdom)

^e MOORFIELDS EYE HOSPITAL   (United Kingdom)

^f GARTNAVEL GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA MALFORMATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCREENING; SPLICING DEFECT; TSPAN12 GENE; VITREORETINOPATHY;

DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; RETINAL DYSPLASIA; RNA, MESSENGER; TETRASPANINS; VITREORETINOPATHY, PROLIFERATIVE;

EID: 84861133523     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8629     Document Type: Article

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