Consortium for osteogenesis imperfecta m
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Joan C. Marini; Antonella Forlino; Wayne A. Cabral; Aileen M. Barnes; James D. S
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Article
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2007
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John Wiley and Sons
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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