Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. [electronic resource]
Producer: 20030916Description: 4035-43 p. digitalISSN:- 0146-0404
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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