Imperfect Collagenesis in Osteogenesis Imperfecta The Consequences of Cysteine‐Glycine Substitutions upon Collagen Structure and Metabolisma
- 22 December 1988
- journal article
- review article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 543 (1), 47-61
- https://doi.org/10.1111/j.1749-6632.1988.tb55315.x
Abstract
No abstract availableThis publication has 65 references indexed in Scilit:
- Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.Journal of Medical Genetics, 1988
- Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple‐helical domainFEBS Letters, 1986
- A Structurally Abnormal α2(I) Collagen Chain in a Further Patient with the Ehlers‐Danlos Syndrome Type VIIaAnnals of the New York Academy of Sciences, 1985
- 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.JCI Insight, 1985
- Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type IINature, 1985
- Heritable Diseases of CollagenNew England Journal of Medicine, 1984
- Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneityAmerican Journal of Medical Genetics, 1984
- Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teethAmerican Journal of Medical Genetics, 1982
- Linkage between dentinogenesis imperfecta and GcAnnals of Human Genetics, 1982
- Intracellular degradation of newly synthesized collagen is conformation‐dependentFEBS Letters, 1981