A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 2, 2005, Pages 663-668

  Richards, Allan J ^a   Meredith, Sarah ^b   Poulson, Arabella ^b   Bearcroft, Philip ^b   Crossland, Graeme ^b   Baguley, David M ^b   Scott, John D ^b   Snead, Martin P ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; COL2A1 GENE; GENE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; LINKAGE ANALYSIS; PEDIGREE; PRIORITY JOURNAL; REPORTER GENE; RETINA DETACHMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHEGMATOGENOUS RETINAL DETACHMENT; STICKLER SYNDROME;

ALTERNATIVE SPLICING; CELLS, CULTURED; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINAL DETACHMENT; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSFECTION;

EID: 13944258779     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1017     Document Type: Article

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