Article
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.
Human mutation - 1 Mar 2007
Marini Joan C, Forlino Antonella, Cabral Wayne A, Barnes Aileen M, San Antonio James D, Milgrom Sarah, Hyland James C, Körkkö Jarmo, Prockop Darwin J, De Paepe Anne, Coucke Paul, Symoens Sofie, Glorieux Francis H, Roughley Peter J, Lund Alan M, Kuurila-Svahn Kaija, Hartikka Heini, Cohn Daniel H, Krakow Deborah, Mottes Monica, Schwarze Ulrike, Chen Diana, Yang Kathleen, Kuslich Christine, Troendle James, Dalgleish Raymond, Byers Peter H
Abstract excerpt
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 COL1A2, encoding the proalpha1(I) and proalpha2(I) chains, respectively) that result in OI. Quantitative defects causing...
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