## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha
Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: Associations with collagen gene mutations
β Scribed by Patrick Garnero; Anne-Marie Schott; Darwin Prockop; Guillaume Chevrel
- Book ID
- 116321094
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 334 KB
- Volume
- 44
- Category
- Article
- ISSN
- 8756-3282
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In three cases of type IV osteogenesis imperfecta (OI), we identified unique point mutations in type I collagen alpha1(I) cDNA. In two cases, the appearance of dimers indicated the presence of cysteine substitutions in the alpha1(I) protein chain. Cyanogen bromide digestion localized these cross-lin
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