Article
Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.
Matrix biology : journal of the International Society for Matrix Biology - 1 Dec 1998
Hecht J T, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke P J
Abstract excerpt
Cartilage oligomeric matrix protein (COMP) is a large extracellular glycoprotein that is found in the territorial matrix surrounding chondrocytes. Two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are caused by mutations in the calcium binding domains of COMP. In this study, we identified two PSACH mutations and assessed the effect of these mutations on...
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