Article
Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 1994
Spotila L D, Colige A, Sereda L, Constantinou-Deltas C D, Whyte M P, Riggs B L, Shaker J L, Spector T D, Hume E, Olsen N
Abstract excerpt
Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with low bone density also have mutations in these genes. The 26 patients studied...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Bone Density
- Bone Diseases, Metabolic
- Child
- Collagen
- Culture Techniques
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation