Article
Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage.
American journal of human genetics - 1 May 1995
Loughlin J, Irven C, Athanasou N, Carr A, Sykes B
Abstract excerpt
Osteoarthritis (OA) is a common debilitating disease resulting from the degeneration of articular cartilage. The major protein of cartilage is type II collagen, which is encoded by the COL2A1 gene. Mutations at this locus have been discovered in several individuals with inherited disorders of cartilage. We have identified 27 primary OA patients who are heterozygous for sequence dimorphisms located in the coding...
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