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
The identification of novel mutations inCOL1A1,COL1A2, andLEPRE1genes in Chinese patients with osteogenesis imperfecta
β Scribed by Zhen-Lin Zhang; Hao Zhang; Yao-hua Ke; Hua Yue; Wen-Jin Xiao; Jin-Bo Yu; Jie-Mei Gu; Wei-Wei Hu; Chun Wang; Jin-Wei He; Wen-Zhen Fu
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 499 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0914-8779
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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
## 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
The original article to which this Erratum refers was published in Human Mutation 24: 147-154 (2004). In Table 1 of the published original article, the fourth mutation should be c.913G4C (not c.913G4A as originally printed) and it should be bolded as it is a novel mutation. In addition, the last mu
Previous observations on mutations causing osteogenesis imperfecta (0I) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs. Th