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Journal Abstract Search

126 related items for PubMed ID: 7749409

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  • 2. 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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  • 3. 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 Apr; 43(4):259-61. PubMed ID: 9852679
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  • 4. 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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  • 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 01; 5(1):79-82. PubMed ID: 8220429
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  • 12. 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 Sep 01; 9(2):131-5. PubMed ID: 9067753
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  • 13. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 01; 25(6):525-34. PubMed ID: 15880705
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  • 19. 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 01; 41(3):339-42. PubMed ID: 8996971
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  • 20. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T.
    J Hum Genet; 2000 Sep 01; 45(2):105-8. PubMed ID: 10721676
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