Article
Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice.
Matrix biology : journal of the International Society for Matrix Biology - 1 Aug 1997
Maddox B K, Garofalo S, Keene D R, Smith C, Horton W A
Abstract excerpt
The biochemical consequences of a type II procollagen mutation that contained a Gly574Ser amino acid substitution were analyzed in a transgenic mouse strain. The mutation correlated with one previously characterized in a patient with the lethal human chondrodysplasia, hypochondrogenesis (Horton et al., 1992), and resulted in a similar shortlimbed phenotype. There were fewer collagen fibrils present in the...
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