Article
Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
Genetics and molecular research : GMR - 2 Sept 2016
Barbirato C, Trancozo M, Rebouças M R G O, Sipolatti V, Nunes V R R, Paula F
Abstract excerpt
Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated...
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