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