A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Medicine & Life Sciences

• Osteogenesis Imperfecta 100%
• Endoplasmic Reticulum 72%
• 2-oxoglutarate 3-dioxygenase proline 68%
• Mutation 42%
• Post Translational Protein Processing 25%
• lysyl-aspartyl-glutamyl-leucine 22%
• cyclophilin B 22%
• IgA receptor 16%
• Hydroxylation 14%
• Loss of Function Mutation 14%
• RNA Stability 13%
• Proline 13%
• Collagen Type I 12%
• Cartilage 10%
• Real-Time Polymerase Chain Reaction 9%
• Collagen 9%
• RNA 8%
• Messenger RNA 7%
• Genes 5%

Agriculture & Biology

• bone formation 88%
• endoplasmic reticulum 67%
• mutation 51%
• post-translational modification 26%
• collagen 21%
• cyclophilins 17%
• RNA 16%
• loss-of-function mutation 15%
• hydroxylation 13%
• cartilage 13%
• proline 10%
• deterioration 10%
• quantitative polymerase chain reaction 9%

Chemical Compounds

• Mutation 63%
• Collagen 47%
• Proline Residue 33%
• Modification 27%
• Enzyme Activity 20%
• Protein 10%