Article
Molecular heterogeneity in osteogenesis imperfecta type I.
American journal of medical genetics - 15 Jan 1993
Willing M C, Pruchno C J, Byers P H
Abstract excerpt
Osteogenesis imperfecta (OI) type I is characterized by bone fragility without significant deformity, osteopenia, normal stature, blue sclerae, and autosomal dominant inheritance. Dermal fibroblasts from most affected individuals produce about half the expected amount of type I collagen, suggesti...
Topics
- Cells, Cultured
- Collagen
- Fibroblasts
- Humans
- Mutation
- Osteogenesis Imperfecta
- Phenotype
- Procollagen
- RNA, Messenger