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Stability Junction at a Common Mutation Site in the Collagenous Domain of the Mannose Binding Lectin †

✍ Scribed by Mohs, Angela; Li, Yingjie; Doss-Pepe, Ellen; Baum, Jean; Brodsky, Barbara


Book ID
127084383
Publisher
American Chemical Society
Year
2005
Tongue
English
Weight
179 KB
Volume
44
Category
Article
ISSN
0006-2960

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✍ Joan C. Marini; Antonella Forlino; Wayne A. Cabral; Aileen M. Barnes; James D. S 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB

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