Article
Heritable diseases of cartilage caused by mutations in collagen genes.
The Journal of rheumatology. Supplement - 1 Feb 1995
Williams C J, Jimenez S A
Abstract excerpt
Osteoarthritis (OA) is a heterogeneous disease resulting from multiple pathogenic mechanisms. Several forms of OA are inherited in an autosomal Mendelian pattern. Recent studies have identified a variety of mutations in the type II collagen gene, which encodes the main collagenous component of articular cartilage in some forms of familial OA and other heritable diseases of cartilage, including Stickler syndrome...
Topics
- Amino Acid Sequence
- Cartilage Diseases
- Collagen
- Humans
- Mutation
- Osteoarthritis
- Osteochondrodysplasias
- Procollagen