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P17 Whole exome sequencing in patients with congenital myopathies
Affiliation:1. Department of Paediatric Neurology – Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London, UK;2. Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, London, UK;3. Clinical Neuroscience Division, King’s College, London, UK;4. Department of Medical Genetics, Haartman Institute, University of Helsinki, Biomedicum Helsinki, Finland;5. The Folkhälsan Department of Medical Genetics, Helsinki, Finland;6. Department of Translational Medecine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch F-67404, France;7. Inserm, U964, Illkirch F-67404, France;8. CNRS, UMR7104, Illkirch F-67404, France;9. Université de Strasbourg, Strasbourg F-67404, France;10. Collège de France, Illkirch F-67404, France;1. University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany;2. Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, MD 20892, USA;1. The Folkhälsan Department of Medical Genetics, Helsinki, Finland;2. Department of Medical Genetics, University of Helsinki, Helsinki, Finland;3. Molecular Neurogenetics Laboratory, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia;1. Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands;2. Dubowitz Neuromuscular Centre, Institute of Child Health & Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK
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