COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

Source:http://linkedlifedata.com/resource/pubmed/id/17403716

Hum. Mol. Genet. 2007 May 15 16 10 1201-15

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PMID
17403716