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Journal Abstract Search

165 related items for PubMed ID: 8950680

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  • 4. The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
    Cole WG, Patterson E, Bonadio J, Campbell PE, Fortune DW.
    J Med Genet; 1992 Feb; 29(2):112-8. PubMed ID: 1613761
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  • 6. A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.
    Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH.
    J Med Genet; 2002 Jan; 39(1):23-9. PubMed ID: 11826020
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  • 12. A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.
    Bateman JF, Lamande SR, Dahl HH, Chan D, Mascara T, Cole WG.
    J Biol Chem; 1989 Jul 05; 264(19):10960-4. PubMed ID: 2500431
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  • 13. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
    Wenstrup RJ, Hunter AG, Byers PH.
    Hum Genet; 1986 Sep 05; 74(1):47-53. PubMed ID: 3759085
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  • 16. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
    Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH.
    Hum Mol Genet; 2011 Apr 15; 20(8):1595-609. PubMed ID: 21282188
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  • 17. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
    Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH.
    J Biol Chem; 1985 Feb 10; 260(3):1734-42. PubMed ID: 2981871
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  • 18. Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.
    Bonadio J, Byers PH.
    Nature; 1985 Feb 10; 316(6026):363-6. PubMed ID: 4022126
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