Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones andeasy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identifiedand assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding the proa1(I)and proa2(I) chains, respectively) that result in OI.

Consortium for Osteogenesis Imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

MOTTES, Monica;
2007-01-01

Abstract

Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones andeasy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identifiedand assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding the proa1(I)and proa2(I) chains, respectively) that result in OI.
2007
Type I collagen; mutations; Osteogenesis Imperfecta
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/232426
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