Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Eitemau Tebyg

• Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.
  gan: Vandenberg, P, et al.
  Cyhoeddwyd: (1991)
• Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
  gan: Eyre, D R, et al.
  Cyhoeddwyd: (1991)
• Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
  gan: Körkkö, J, et al.
  Cyhoeddwyd: (1993)
• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
  gan: Ahmad, N N, et al.
  Cyhoeddwyd: (1991)
• A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
  gan: Kontusaari, S, et al.
  Cyhoeddwyd: (1990)