Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

Ritvaniemi, P;Körkkö, J;Bonaventure, J;Vikkula, Miikka;Hakala, M;et.al.
(1995) Arthritis and rheumatism — Vol. 38, n° 7, p. 999-1004 (1995)

Files

VikkulaetalArthitisRheum1995.pdf
  • Restricted Access
  • Adobe PDF
  • 3.45 MB

Details

Authors
  • Ritvaniemi, P
    Author
  • Körkkö, J
    Author
  • Bonaventure, J
    Author
  • Author
  • Hakala, M
    Author
Show more
Abstract
Using the procedure developed for analysis of the COL2A1 gene, mutations were detected in > 20% of patients with chondrodysplasias and up to 2% of patients with early-onset familial OA. However, these percentages are only minimal estimates because all possible mutations in the gene cannot be detected with this procedure.
Affiliations

Citations

Ritvaniemi, P., Körkkö, J., Bonaventure, J., Vikkula, M., Hyland, J., Paassilta, P., Kaitila, I., Kääriäinen, H., Sokolov, B. P., & Hakala, M. (1995). Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis and rheumatism, 38(7), 999-1004. https://hdl.handle.net/2078.5/78558 (Original work published 1995)