Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta
“Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta”, vol. 15, p. -, 2016.
, 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 sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients.