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Analysis of COL1A1, COL1A2, CRTAP and LEPRE1 mutations in Chinese patients with osteogenesis imperfecta
Affiliation:1. Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy;2. Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy;3. Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA, United States;4. Medical Faculty, Center for Biochemistry, Center for Molecular Medicine, University of Cologne, Cologne, Germany;5. Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;6. Department of Biology, Ghent University, Ghent, Belgium;1. Institute of Endocrinology and Diabetes, The Children''s Hospital at Westmead, Sydney, NSW, Australia;2. Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia;3. Molecular Genetics Department, Western Sydney Genetics Program, The Children''s Hospital at Westmead, Sydney, NSW, Australia;4. Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia;5. Department of Nuclear Medicine, The Children''s Hospital at Westmead, Sydney, NSW, Australia;6. Department of Health Professions, Macquarie University, Sydney, NSW, Australia;7. Department of ENT and Discipline of Paediatrics and Child health, The Children''s Hospital at Westmead, Sydney, NSW, Australia
Abstract:
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