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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff, Kirsten E; DeBalsi, Karen L; Sanchez-Quintero, Maria J; Longley, Matthew J; Hirano, Michio; Naini, Ali B; Copeland, William C.
Afiliação
  • Hoff KE; 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.
  • DeBalsi KL; 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.
  • Sanchez-Quintero MJ; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America.
  • Longley MJ; 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.
  • Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America.
  • Naini AB; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, United States of America.
  • Copeland WC; Department of Pathology and Cell Biology, Columbia University, New York, NY, United States of America.
PLoS One ; 13(8): e0203198, 2018.
Article em En | MEDLINE | ID: mdl-30157269
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / DNA Polimerase Dirigida por DNA / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / DNA Polimerase Dirigida por DNA / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos