Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

  title={Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.},
  author={John F Bateman and Richard W. Wilson and Susanna Freddi and Shireen R. Lamand{\'e} and R Savarirayan},
  journal={Human mutation},
  volume={25 6},
Schmid metaphyseal chondrodysplasia (SMCD) is a dominantly inherited cartilage disorder caused by mutations in the gene for the hypertrophic cartilage extracellular matrix structural protein, collagen X (COL10A1). Thirty heterozygous mutations have been described, about equally divided into two mutation types, missense mutations, and mutations that introduce premature termination signals. The COL10A1 mutations are clustered (33/36) in the 3' region of exon 3, which codes for the C-terminal NC1… CONTINUE READING
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