Browsing by Subject "fatality"
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A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the α1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen (1989)A fraction of the proα1(I) and proα2(I) chains in type I procollagen synthesized by the fibroblasts from a proband with a lethal variant of osteogenesis imperfecta were overmodified by posttranslational reactions. After ...
A Substitution of Cysteine for Glycine 904 in COL1A1 in a Proband with Lethal Osteogenesis Imperfecta and in Her Asymptomatic Mother (1990)