A Frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

American Journal of Ophthalmology

Volumn 133, Issue 2, 2002, Pages 203-210

  Gupta, Sanjoy K ^a,b   Leonard, Brian C ^a   Damji, Karim F ^a,b   Bulman, Dennis E ^a,b  

^a UNIVERSITY OF OTTAWA EYE INSTITUTE   (Canada)

^b OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; MESSENGER RNA;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; OPHTHALMOSCOPY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DETACHMENT; VITREORETINAL DEGENERATION;

ADOLESCENT; ADULT; AGED; ALTERNATIVE SPLICING; COHORT STUDIES; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; EXONS; EYE DISEASES; EYE DISEASES, HEREDITARY; FEMALE; FRAMESHIFT MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; RNA, MESSENGER; SYNDROME; VITREOUS BODY;

EID: 0036141515     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01339-3     Document Type: Article

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