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 evaluated clinically and radiologically. Blood samples from 58 subjects in the familial OA group and from all 13 patients...
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