Severe osteogenesis imperfecta — the role of bisphosphonate therapy
✍ Scribed by L. Wang; M. Au-Yeong; B. Murray; M. Fitzsgibbon; S. van der Kamp; M. J. McKenna
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 208 KB
- Volume
- 171
- Category
- Article
- ISSN
- 1863-4362
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We have screened type I procollagen synthesized in vitro by skin fibroblasts from several patients with the severe non-lethal form of osteogenesis imperfecta. Cells from one patient synthesized and secreted both normal and a larger amount of abnormal type I procollagen. The abnormal alpha chains are
In osteogenesis imperfecta (01) the effects of mutations in type I collagen genes generally reflect their nature and localization. Unrelated individuals sharing identical mutations present, in general, similar clinical phenotypes. However, in some such cases the clinical phenotype differs. This vari