Article
Molecular basis of osteogenesis imperfecta and related disorders of bone.
Clinics in plastic surgery - 1 Jul 1994
Prockop D J, Kuivaniemi H, Tromp G
Abstract excerpt
Recent work has demonstrated that more than 90% of patients with osteogenesis imperfecta (OI) have mutations in the gene for either the pro alpha 1 (I) chain or the gene for the pro alpha 2 (I) chain of type I procollagen. Three molecular mechanisms have explained the devastating effects of these mutations. In addition, the data provide several general conclusions about mutations in collagen genes. Studies in...
Topics
- Animals
- Cells, Cultured
- DNA
- Fibroblasts
- Gene Expression
- Genetic Linkage
- Humans
- Mice
- Mice, Transgenic
- Models, Molecular
- Molecular Structure
- Mutation