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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
Authors:Sze Chern Lim  Katherine R Smith  David A Stroud  Alison G Compton  Elena J Tucker  Ayan Dasvarma  Luke C Gandolfo  Justine E Marum  Matthew McKenzie  Heidi L Peters  David Mowat  Peter G Procopis  Bridget Wilcken  John Christodoulou  Garry K Brown  Michael T Ryan  Melanie Bahlo  David R Thorburn
Institution:1 Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, VIC 3052, Australia;2 Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia;3 Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia;4 Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia;5 Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, VIC 3086, Australia;6 Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3052, Australia;7 Centre for Genetic Diseases, Monash Institute of Medical Research, Melbourne, VIC 3168, Australia;8 Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, VIC 3052, Australia;9 Department of Medical Genetics, Sydney Children’s Hospital, School of Women’s and Children’s Health, University of NSW, Sydney, NSW 2031, Australia;10 Department of Neurology, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia;11 Discipline of Paediatrics & Child Health, University of Sydney, Sydney, NSW 2006, Australia;12 Genetic Metabolic Disorders Research Unit, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia;13 Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia;14 Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
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