Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance |
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| Authors: | Penelope E. Bonnen,John W. Yarham,Arnaud Besse,Ping Wu,Eissa A. Faqeih,Ali Mohammad Al-Asmari,Mohammad A.M. Saleh,Wafaa Eyaid,Alrukban Hadeel,Langping He,Frances Smith,Shu Yau,Eve M. Simcox,Satomi Miwa,Taraka Donti,Khaled K. Abu-Amero,Lee-Jun Wong,William J. Craigen,Brett H. Graham,Kenneth L. Scott,Robert McFarland,Robert W. Taylor |
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| Affiliation: | 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;2 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;3 Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK;4 Section of Medical Genetics, Children’s Hospital, King Fahad Medical City, P.O. Box 59046, Riyadh 11525, Saudi Arabia;5 Department of Pediatrics, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health & Science, P.O. Box 22490, Riyadh 11426, Saudi Arabia;6 DNA Laboratory, Guy’s and St Thomas’ Serco Pathology, Guy’s Hospital, London SE1 9RT, UK;7 Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE4 5PL, UK;8 Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh 11411, Saudi Arabia |
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