PPIB Mutations Cause Severe Osteogenesis Imperfecta
Top Cited Papers
- 24 September 2009
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 85 (4), 521-527
- https://doi.org/10.1016/j.ajhg.2009.09.001
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisEuropean Journal of Human Genetics, 2009
- Biochemical Characterization of the Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B ComplexJournal of Biological Chemistry, 2009
- Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylationJournal of Medical Genetics, 2008
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfectaHuman Mutation, 2008
- The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagensAmino Acids, 2008
- Nitrotyrosine in Human Neonatal Spinal Cord after Perinatal AsphyxiaNeonatology, 2007
- Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfectaNature Genetics, 2007
- Procollagen trafficking, processing and fibrillogenesisJournal of Cell Science, 2005
- Prolyl 3-Hydroxylase 1, Enzyme Characterization and Identification of a Novel Family of EnzymesJournal of Biological Chemistry, 2004
- Hsp47 and Cyclophilin B Traverse the Endoplasmic Reticulum with Procollagen into Pre-Golgi Intermediate VesiclesPublished by Elsevier ,1995