Novel and recurrent mutations in the C-t
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Jason Kennedy; Gail C. Jackson; Faye S. Barker; Seema Nundlall; Jordi Bella; Mic
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Article
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2005
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John Wiley and Sons
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English
β 250 KB
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Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a m