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

Marini, J.; Forlino, A.; A. Cabral, W.; M. Barnes, Aileen; S. San Antonio, J.; Milgrom, S.; Hyland, J.; Körkkö, J.; Prockop, D.; De Paepe, A.; Coucke, P.; Symoens, S.; Glorieux, F.; Roughley, P.; M. Lund, Alan; Kuurila-Svahn, Kaija; Hartikka, Heini; Cohn, D.; Krakow, D.; Mottes, M.; Schwarze, U.; Chen, Diana; Yang, K.; Kuslich, C.; Troendle, J.; Dalgleish, R.; Byers, P.

doi:10.1002/HUMU.20429

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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

Shared by NobleBlocks on Mar 1, 2007 • 12:00 AM UTC

Authors:

J. Marini

A. Forlino

W. A. Cabral

Abstract

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...

Subject

Biology

Materials Science

Medicine

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