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

  title={Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias},
  author={J. Bonaventure and F. Chaminade and P. Maroteaux},
  journal={Human Genetics},
  • J. Bonaventure, F. Chaminade, P. Maroteaux
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • 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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