Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C‐terminal noncollagenous domain of type X collagen

@article{Mcintosh1995ConcentrationOM,
  title={Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C‐terminal noncollagenous domain of type X collagen},
  author={I. Mcintosh and M. Abbott and C. Francomano},
  journal={Human Mutation},
  year={1995},
  volume={5}
}
  • I. Mcintosh, M. Abbott, C. Francomano
  • Published 1995
  • Biology, Medicine
  • Human Mutation
  • Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COL10A1. A further three mutations have been identified, including two nonsense mutations (Y268X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutations identified to date is within the C‐terminal noncollagenous domain of type X collagen and three of five deletions initiated around the same nucleotide. This domain is believed to be involved in the… CONTINUE READING
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    References

    SHOWING 1-10 OF 17 REFERENCES
    A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
    • 220
    SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
    • 27
    Mutations in collagen genes: causes of rare and some common diseases in humans
    • H. Kuivaniemi, G. Tromp, D. Prockop
    • Biology, Medicine
    • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
    • 1991
    • 394