Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias

@article{Bonaventure1995MutationsIT,
  title={Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias},
  author={Jacky Bonaventure and Françoise Chaminade and Pierre Maroteaux},
  journal={Human Genetics},
  year={1995},
  volume={96},
  pages={58-64}
}
We have used the polymerase chain reaction and single strand conformation polymorphism (SSCP) methods to analyse the COL10A1 gene, which encodes collagen type X, in DNA samples from patients with metaphyseal dysplasia type Schmid (SMCD) and other related forms of metaphyseal dysplasia. Five cases of SMCD were sporadic and three others were familial. Abnormal SSCP profiles were observed in six instances. In two families, the altered pattern segregated with the phenotype. The heterozygous… CONTINUE READING
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A mutation in the conserved NC1 domain of type X collagen prevents in vitro multimer assembly resulting in a Schmid metaphyseal chondrodysplasia (abstract)

  • D Chan, WG Cole, J Rogers, J Bateman
  • Matrix
  • 1994

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