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Journal Abstract Search

220 related items for PubMed ID: 8220429

  • 1. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
    Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
    Nat Genet; 1993 Sep; 5(1):79-82. PubMed ID: 8220429
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  • 6. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
    Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.
    Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716
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  • 12. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1.
    Pace JM, Li Y, Seegmiller RE, Teuscher C, Taylor BA, Olsen BR.
    Dev Dyn; 1997 Jan 15; 208(1):25-33. PubMed ID: 8989518
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  • 14. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
    Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP.
    J Med Genet; 1996 Jun 15; 33(6):450-7. PubMed ID: 8782043
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  • 16. A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia.
    Matsui Y, Kimura T, Tsumaki N, Yasui N, Ochi T.
    Jpn J Hum Genet; 1996 Sep 15; 41(3):339-42. PubMed ID: 8996971
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