Severity of Osteogenesis Imperfecta and Structure of a Collagen-like Peptide Modeling a Lethal Mutation Site†
✍ Scribed by Radmer, Randall J.; Klein, Teri E.
- Book ID
- 115533153
- Publisher
- American Chemical Society
- Year
- 2004
- Tongue
- English
- Weight
- 217 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0006-2960
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Osteogenesis imperfecta (OI), a disorder characterized by fragile bones, is often a consequence of missense mutations in type I collagen, which change one Gly in the repeating (Gly-Xaa-Yaa)(n) sequence to a larger amino acid. The impact of local environment and the identity of the residue replacing
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identified and assembled structural mutations in type I collagen genes (COL1A1 and COL1