Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin
Analysis of COL1A1, COL1A2, CRTAP and LEPRE1 mutations in Chinese patients with osteogenesis imperfecta
β Scribed by Hao Zhang; Zhen-lin Zhang
- Book ID
- 116323721
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 47 KB
- Volume
- 47
- Category
- Article
- ISSN
- 8756-3282
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t
## Communicated by Peter Byers Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the a1 and a2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in a1(I) or a2(I) lea