Article
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Human molecular genetics - 15 Apr 2011
Pyott Shawna M, Schwarze Ulrike, Christiansen Helena E, Pepin Melanie G, Leistritz Dru F, Dineen Richard, Harris Catharine, Burton Barbara K, Angle Brad, Kim Katherine, Sussman Michael D, Weis Maryann, Eyre David R, Russell David W, McCarthy Kevin J, Steiner Robert D, Byers Peter H
Abstract excerpt
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis-trans isomerase B (PPIB) genes result in phenotypes that range from lethal in the perinatal period to severe deforming osteogenesis imperfecta (OI). These genes encode CRTAP (encoded by CRTAP), prolyl 3-hydroxylase 1 (P3H1; encoded by LEPRE1) and cyclophilin B (CYPB; encoded by...
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