Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

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  《Brain》 |2012年第11期|p.3404-3415|共12页
• 作者

  Dario Ronchi1 Caterina Garone23 Andreina Bordoni1 Purificacion Gutierrez Rios2 Sarah E. Calvo4567 Michela Ripolone8 Michela Ranieri1 Mafalda Rizzuti1 Luisa Villa8 Francesca Magri1 Stefania Corti19 Nereo Bresolin1910 Vamsi K. Mootha4567 Maurizio Moggio8 Salvatore DiMauro2 Giacomo P. Comi19 and Monica Sciacco8;

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• 作者单位

  1 Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy 2 Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA 3 Human Genetics Joint PhD Programme, University of Turin, 10125 Turin, Italy and University of Bologna, 40125 Bologna, Italy 4 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA 5 Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA 6 Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA 7 Broad Metabolism Initiative, Seven Cambridge Center, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA 8 Neuromuscular Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferr;

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