SERPINH1

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta

C. Barbirato, Trancozo, M., Rebouças, M. R. G. O., Sipolatti, V., Nunes, V. R. R., Paula, F., Barbirato, C., Trancozo, M., Rebouças, M. R. G. O., Sipolatti, V., Nunes, V. R. R., and Paula, F., 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.

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