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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

158 related items for PubMed ID: 7607655

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  • 4. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
    Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y.
    Hum Mutat; 1997; 9(2):131-5. PubMed ID: 9067753
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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; 43(4):259-61. PubMed ID: 9852679
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  • 7. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
    Stratakis CA, Orban Z, Burns AL, Vottero A, Mitsiades CS, Marx SJ, Abbassi V, Chrousos GP.
    Biochem Mol Med; 1996 Dec; 59(2):112-7. PubMed ID: 8986632
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  • 8. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.
    Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, Lamandé SR.
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024737
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  • 9. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
    McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA.
    Hum Mol Genet; 1994 Feb; 3(2):303-7. PubMed ID: 8004099
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  • 11. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
    Chan D, Weng YM, Graham HK, Sillence DO, Bateman JF.
    J Clin Invest; 1998 Apr 01; 101(7):1490-9. PubMed ID: 9525992
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  • 13. 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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  • 16. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 07; 25(6):525-34. PubMed ID: 15880705
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  • 17. Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.
    Young AE, Ryun JR, Bannasch DL.
    Mamm Genome; 2006 Jul 07; 17(7):761-8. PubMed ID: 16845471
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