Article
Osteogenesis imperfecta: prospects for molecular therapeutics.
Molecular genetics and metabolism - 1 Jan 2000
Forlino A, Marini J C
Abstract excerpt
Osteogenesis Imperfecta (OI) is a dominant negative disorder of connective tissue. OI patients present with bone fragility and skeletal deformity within a broad phenotypic range. Defects in the COL1A1 or COL1A2 genes, coding, respectively, for the alpha1 and alpha2 chains of type I collagen, are the causative mutations. Over 150 mutations have been characterized. Both quantitative defects, such as null COL1A1...
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