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.
|Titolo:||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|
|Data di pubblicazione:||2007|
|Appare nelle tipologie:||01.01 Articolo in Rivista|