Article
Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.
Arthritis and rheumatism - 1 Feb 1994
Pun Y L, Moskowitz R W, Lie S, Sundstrom W R, Block S R, McEwen C, Williams H J, Bleasel J F, Holderbaum D, Haqqi T M
Abstract excerpt
OBJECTIVE: To investigate the occurrence and clinical correlation of the arg519-to-cys mutation in the type II procollagen gene in patients with osteoarthritis (OA). METHODS: Sixty-six subjects from 7 families with a strong family history of generalized OA and 13 patients with erosive OA were eva...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Base Sequence
- Child
- Female
- Genes
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Osteoarthritis
- Pedigree