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Autor:
Jae Won Choi, Shari L Sutor, Lonn Lindquist, Glenda L Evans, Benjamin J Madden, H Robert Bergen, Theresa E Hefferan, Michael J Yaszemski, Richard J Bram
Publikováno v:
PLoS Genetics, Vol 5, Iss 12, p e1000750 (2009)
Osteogenesis Imperfecta (OI) is a human syndrome characterized by exquisitely fragile bones due to osteoporosis. The majority of autosomal dominant OI cases result from point or splice site mutations in the type I collagen genes, which are thought to
Externí odkaz:
https://doaj.org/article/6198cc03b1f54266bae27fc9975b998a
