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4. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG. J Biol Chem; 1987 May 25; 262(15):7021-7. PubMed ID: 3108247 [Abstract] [Full Text] [Related]
5. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. Wenstrup RJ, Hunter AG, Byers PH. Hum Genet; 1986 Sep 25; 74(1):47-53. PubMed ID: 3759085 [Abstract] [Full Text] [Related]
8. Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite. Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA, Kadler KE. Biochem J; 1995 Nov 01; 311 ( Pt 3)(Pt 3):815-20. PubMed ID: 7487936 [Abstract] [Full Text] [Related]
10. Lethal osteogenesis imperfecta with amniotic band lesions: collagen studies. van der Rest M, Hayes A, Marie P, Desbarats M, Kaplan P, Glorieux FH. Am J Med Genet; 1986 Jul 01; 24(3):433-46. PubMed ID: 3728562 [Abstract] [Full Text] [Related]