Article
Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene.
Molecular & cellular proteomics : MCP - 1 Nov 2002
Mooney Sean D, Klein Teri E
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetic disease in which the most common mutations result in substitutions for glycine residues in the triple helical domain of the chains of type I collagen. Currently there is no way to use sequence information to predict the clinical OI phenotype. However, structural models coupled with biophysical and machine learning methods may be able to predict sequences that, when...
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