Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 9, 2003, Pages 4035-4043

  Go, Sioe Lie ^a   Maugeri, Alessandra ^a   Mulder, Jef J S ^a   Van Driel, Marc A ^a   Cremers, Frans P M ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10Q; CHROMOSOME 12Q; CHROMOSOME 18P; CHROMOSOME 5Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COL2A1 GENE; DNA DETERMINATION; DNA SEQUENCE; EROSIVE VITREORETINOPATHY; EXON; FEMALE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MYOPIA; NONSYNDROMIC CONGENITAL RETINAL NONATTACHMENT; ONSET AGE; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA DETACHMENT; RETINA TEAR; RHEGMATOGENOUS RETINAL DETACHMENT; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; STICKLER SYNDROME; WAGNER DISEASE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CODON, TERMINATOR; COLLAGEN TYPE II; CONNECTIVE TISSUE DISEASES; DNA MUTATIONAL ANALYSIS; EYE DISEASES; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINAL DEGENERATION; RETINAL DETACHMENT; RETINAL PERFORATIONS; SYNDROME; VITREOUS BODY;

EID: 0041861039     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0736     Document Type: Article

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