Article
The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta.
Clinical orthopaedics and related research - 1 Oct 1997
Cole W G
Abstract excerpt
A systematic analysis of the molecular pathology of osteogenesis imperfecta was undertaken in 200 cases. The findings indicate that molecular defects of Type I collagen are the major cause of this disease. The mild form of osteogenesis imperfecta is caused by quantitative anomalies of Type I coll...
Topics
- 3T3 Cells
- Animals
- Arginine
- Awards and Prizes
- Bone and Bones
- Cells, Cultured
- Child
- Collagen
- Cysteine
- Ehlers-Danlos Syndrome
- Extracellular Matrix
- Extracellular Matrix Proteins
- Fibroblasts
- Genotype
- Glycine
- Humans
- Infant
- Mice