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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

209 related items for PubMed ID: 9525992

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  • 5. 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. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
    Sawai H, Ida A, Nakata Y, Koyama K.
    J Hum Genet; 1998 Sep; 43(4):259-61. PubMed ID: 9852679
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  • 8. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    Chan D, Freddi S, Weng YM, Bateman JF.
    J Biol Chem; 1999 May 07; 274(19):13091-7. PubMed ID: 10224061
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  • 11. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
    Bateman JF, Freddi S, Nattrass G, Savarirayan R.
    Hum Mol Genet; 2003 Feb 01; 12(3):217-25. PubMed ID: 12554676
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  • 20. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
    Freddi S, Savarirayan R, Bateman JF.
    Am J Med Genet; 2000 Feb 28; 90(5):398-406. PubMed ID: 10706362
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