Article
Procollagen II gene mutation in Stickler syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992
Brown D M, Nichols B E, Weingeist T A, Sheffield V C, Kimura A E, Stone E M
Abstract excerpt
Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12. This mutation was not seen in any of five clinically unaffected family members or in any...
Topics
- Adolescent
- Adult
- Cartilage Diseases
- Chromosomes, Human, Pair 12
- DNA
- Eye Diseases
- Female
- Fundus Oculi
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Procollagen
- Retinal Diseases
- Syndrome
- Vitreous Body