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Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Franco, Melissa; Pickett, Sarah J; Fleischmann, Zoe; Khrapko, Mark; Cote-L'Heureux, Auden; Aidlen, Dylan; Stein, David; Markuzon, Natasha; Popadin, Konstantin; Braverman, Maxim; Woods, Dori C; Tilly, Jonathan L; Turnbull, Doug M; Khrapko, Konstantin.
Afiliação
  • Franco M; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Pickett SJ; Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University and Newcastle Medical School, Newcastle-upon-Tyne NE2 4HH, UK.
  • Fleischmann Z; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Khrapko M; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Cote-L'Heureux A; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Aidlen D; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Stein D; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Markuzon N; Draper Laboratories, Cambridge, MA 02139, USA.
  • Popadin K; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne 1015, Switzerland.
  • Braverman M; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Woods DC; Center for Mitochondrial Functional Genomics, Institute of Living Systems, Immanuel Kant Baltic Federal University, Kaliningrad 236040, Russia.
  • Tilly JL; Department of Mathematics, Northeastern University, Boston, MA 02115, USA.
  • Turnbull DM; Department of Biology, Northeastern University, Boston, MA 02115, USA.
  • Khrapko K; Department of Biology, Northeastern University, Boston, MA 02115, USA.
Hum Mol Genet ; 31(23): 4075-4086, 2022 11 28.
Article em En | MEDLINE | ID: mdl-35849052

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article