Article
Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
The Journal of clinical investigation - 1 Jan 1991
Eyre D R, Weis M A, Moskowitz R W
Abstract excerpt
In a family who expressed severe dominantly inherited osteoarthritis, the underlying mutation was traced by genomic sequencing to a single base change which predicts an amino acid substitution of cysteine for arginine at residue 519 of the triple-helical domain of the type II collagen molecule (Ala-Kokko, L., C. T. Baldwin, R. W. Moskowitz, and D. J. Prockop. 1990. Proc. Natl. Acad. Sci. USA. 87:6565-6568). In...
Topics
- Amino Acid Sequence
- Cartilage
- Collagen
- Humans
- Molecular Sequence Data
- Mutation
- Osteoarthritis
- Osteochondrodysplasias