Article
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Genetics and molecular research : GMR - 3 Dec 2015
Barbirato C, Trancozo M, Almeida M G, Almeida L S, Santos T O, Duarte J C G, Rebouças M R G O, Sipolatti V, Nunes V R R, Paula F
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for...
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