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

Go, Sioe Lie

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. [electronic resource] - Investigative ophthalmology & visual science Sep 2003 - 4035-43 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0146-0404

10.1167/iovs.02-0736 doi


Adolescent
Adult
Age of Onset
Child
Codon, Terminator--genetics
Collagen Type II--genetics
Connective Tissue Diseases--genetics
DNA Mutational Analysis
Eye Diseases--genetics
Female
Genes, Dominant
Genetic Linkage
Humans
Male
Middle Aged
Mutation
Pedigree
Retinal Degeneration--genetics
Retinal Detachment--genetics
Retinal Perforations--genetics
Syndrome
Vitreous Body--pathology