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