A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta
Open Access
- 1 February 1989
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 264 (5) , 3002-3006
- https://doi.org/10.1016/s0021-9258(19)81713-1
Abstract
No abstract availableKeywords
This publication has 40 references indexed in Scilit:
- Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.Journal of Clinical Investigation, 1986
- Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.Proceedings of the National Academy of Sciences, 1986
- Collagen genes and inherited connective tissue diseaseBiochemical Journal, 1985
- Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.Proceedings of the National Academy of Sciences, 1985
- Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfectaNature, 1983
- Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.Journal of Clinical Investigation, 1983
- Formation of the Triple Helix of Type I Procollagen in cellulo. A Kinetic Model Based on cis-trans Isomerization of Peptide BondsEuropean Journal of Biochemistry, 1981
- Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.Proceedings of the National Academy of Sciences, 1981
- Proteolytic enzymes as probes for the triple-helical conformation of procollagenAnalytical Biochemistry, 1981
- Human skin collagenase: isolation of precursor and active forms from both fibroblast and organ culturesBiochemistry, 1977