Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

@article{Mcintosh1994AdditionalMO,
  title={Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.},
  author={Iain Mcintosh and Margaret H Abbott and Matthew L Warman and Bjorn Reino Olsen and Clair A. Francomano},
  journal={Human molecular genetics},
  year={1994},
  volume={3 2},
  pages={303-7}
}
Type X collagen is a short chain collagen expressed in hypertrophic chondrocytes during bone growth. A 13bp deletion has been shown to segregate with Schmid metaphyseal chondrodysplasia, an autosomal dominant disorder of the osseous skeleton, in a large Mormon kindred. To increase our understanding of the role type X collagen plays in development we have used SSCP analysis to identify three additional mutations in patients with Schmid metaphyseal chondrodysplasia. Two are frameshift mutations… CONTINUE READING

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