Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
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- Sarah E. Calvo
- Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.
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- Alison G. Compton
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Steven G. Hershman
- Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.
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- Sze Chern Lim
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Daniel S. Lieber
- Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.
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- Elena J. Tucker
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Adrienne Laskowski
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Caterina Garone
- Department of Neurology, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY 10032, USA.
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- Shangtao Liu
- Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.
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- David B. Jaffe
- Broad Institute of Harvard and Massachusetts Institute of Technology, 7 Cambridge Center, Cambridge, MA 02141, USA.
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- John Christodoulou
- Genetic Metabolic Disorders Research Unit, Children’s Hospital at Westmead, 212 Hawkesbury Road, Westmead, NSW 2145, Australia.
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- Janice M. Fletcher
- Department of Genetics and Molecular Pathology, 72 King William Road, North Adelaide, SW 5006, Australia.
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- Damien L. Bruno
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Jack Goldblatt
- Genetic Services of Western Australia, King Edward Memorial Hospital, University of Western Australia, Perth, WA 6009, Australia.
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- Salvatore DiMauro
- Department of Neurology, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY 10032, USA.
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- David R. Thorburn
- Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.
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- Vamsi K. Mootha
- Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.
書誌事項
- 公開日
- 2012-01-25
- DOI
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- 10.1126/scitranslmed.3003310
- 公開者
- American Association for the Advancement of Science (AAAS)
この論文をさがす
説明
<jats:p>Applying next-generation sequencing to 42 infants with mitochondrial disease highlights both the potential and the challenge of using this technology in clinical diagnosis.</jats:p>
収録刊行物
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- Science Translational Medicine
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Science Translational Medicine 4 (118), 118ra10-, 2012-01-25
American Association for the Advancement of Science (AAAS)
