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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity

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作者单位: Department of Neurology, Children's Hospital of Los Angeles, Los Angeles, CA 90027, United States [1] Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, 110002 New Delhi, India [2] Center of Medical Genetics, Sir Ganga Ram Hospital, 110060 New Delhi, India [3] Department of Physics and Medical Technology, VU University Medical Center, 1081 HZ Amsterdam [4] Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, 1081 HZ [5] Institute for Molecular Bioscience, University of Queensland, St. Lucia, QLD 4072, Australia [6] Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London W1W 5AH [7] Department of Neurology, Children's National Medical Center, Washington, DC 20010, United States [8] Division of Pediatric Neuroradiology, Hospital for Sick Children, University of Toronto, Toronto [9] Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of [10] Department of Neurology, Erasmus Medical Centre, Rotterdam 3000, Netherlands [11] Department of Clinical Genetics, VU University Medical Center, 1081 HZ Amsterdam, Netherlands [12] Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia [13] Mission Massimo Foundation, Melbourne, VIC 3000, Australia [14] Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto [15] Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia, Murdoch [16]
发布时间 2013-11-20
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The American Journal of Human Genetics

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