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6. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D. Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716 [Abstract] [Full Text] [Related]
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