Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

• Kirsten E. Hoff ,

  Contributed equally to this work with: Kirsten E. Hoff, Karen L. DeBalsi

  Roles Conceptualization, Data curation, Formal analysis, Writing – original draft

  Affiliation Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America

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• Karen L. DeBalsi ,

  Contributed equally to this work with: Kirsten E. Hoff, Karen L. DeBalsi

  Roles Conceptualization, Data curation, Formal analysis, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America

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• Maria J. Sanchez-Quintero,

  Roles Data curation, Writing – review & editing

  Affiliation Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America

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• Matthew J. Longley,

  Roles Conceptualization, Supervision, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America

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• Michio Hirano,

  Roles Resources, Supervision

  Affiliation Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America

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• Ali B. Naini,

  Roles Resources, Supervision, Writing – review & editing

  Affiliations Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America, Department of Pathology and Cell Biology, Columbia University, New York, NY, United States of America, Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, United States of America

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• William C. Copeland

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: copelan1@niehs.nih.gov

  Affiliation Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America

  http://orcid.org/0000-0002-0359-0953

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