A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain
Open Access
- 1 January 1991
- journal article
- case report
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 266 (3) , 1872-1878
- https://doi.org/10.1016/s0021-9258(18)52374-7
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Segregation analysis of dominant osteogenesis imperfecta in Italy.Journal of Medical Genetics, 1990
- A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.Journal of Clinical Investigation, 1989
- Osteogenesis Imperfecta: The Molecular Basis of Clinical HeterogeneityaAnnals of the New York Academy of Sciences, 1988
- Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human proα 1(I) collagen gene (COL1A1)Gene, 1988
- Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.Journal of Clinical Investigation, 1985
- Human proα1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exonsNature, 1984
- An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.BMJ, 1984
- Biochemical Investigations of Different Forms of Osteogenesis Imperfecta. Evaluation of 44 CasesConnective Tissue Research, 1983
- Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by FluorographyEuropean Journal of Biochemistry, 1975
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970