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Nijhuis, W.A. (author), Eastwood, D. M. (author), Allgrove, J. (author), Hvid, I. (author), Weinans, H.H. (author), Bank, R. A. (author), Sakkers, R. J. (author)
The majority of patients with osteogenesis imperfecta (OI) have mutations in the COL1A1 or COL1A2 gene, which has consequences for the composition of the bone matrix and bone architecture. The mutations result in overmodified collagen molecules, thinner collagen fibres and hypermineralization of bone tissue at a bone matrix level. Trabecular...
journal article 2019