Associated Papers
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 et al.
Human Molecular Genetics, 2007
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Bateman JF et al.
Human Mutation, 2005
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.
Bateman JF et al.
Human Mutation, 2004
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