首页 | 本学科首页   官方微博 | 高级检索  
     


COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;2. Texas Children’s Hospital, Houston, TX 77030, USA;3. Telethon Institute of Genetics and Medicine, Naples 80078, Italy;4. Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA;5. Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA;6. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA;7. Center for Integrative Brain Research, Seattle Children’s Research Institute, and Department of Pediatrics, University of Washington, and Brotman Baty Institute for Precision Medicine, Seattle, WA 98105, USA;8. Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK;9. Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA;10. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;11. Laboratory for Translational Genomics, ARS/USDA Children’s Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA;12. Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA;13. Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA;14. Department of Pathology, Texas Children’s Hospital, and Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA;15. Division of Human Genetics, and Division of Developmental Biology, and Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA;16. Department of Molecular Medicine and Medical Biotechnology, University of Napoli Federico II, Naples 80078, Italy
Abstract:
Keywords:coatopathy  COPI complex  COPB2  collagen trafficking  juvenile osteoporosis
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号