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

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• Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.
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• A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
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