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A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Siibak, Triinu; Clemente, Paula; Bratic, Ana; Bruhn, Helene; Kauppila, Timo E S; Macao, Bertil; Schober, Florian A; Lesko, Nicole; Wibom, Rolf; Naess, Karin; Nennesmo, Inger; Wedell, Anna; Peter, Bradley; Freyer, Christoph; Falkenberg, Maria; Wredenberg, Anna.
Afiliação
  • Siibak T; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg SE-405?30, Sweden.
  • Clemente P; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.
  • Bratic A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Bruhn H; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Cologne D-50931, Germany.
  • Kauppila TES; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Macao B; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm SE-171 76, Sweden.
  • Schober FA; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Cologne D-50931, Germany.
  • Lesko N; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg SE-405?30, Sweden.
  • Wibom R; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.
  • Naess K; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Nennesmo I; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm SE-171 76, Sweden.
  • Peter B; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm SE-171 76, Sweden.
  • Falkenberg M; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm SE-171 76, Sweden.
Hum Mol Genet ; 26(13): 2515-2525, 2017 07 01.
Article em En | MEDLINE | ID: mdl-28430993
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Polimerase Dirigida por DNA Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Infant Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Polimerase Dirigida por DNA Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Infant Idioma: En Ano de publicação: 2017 Tipo de documento: Article