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Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Correia, Sandrina P; Moedas, Marco F; Naess, Karin; Bruhn, Helene; Maffezzini, Camilla; Calvo-Garrido, Javier; Lesko, Nicole; Wibom, Rolf; Schober, Florian A; Jemt, Anders; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna.
Affiliation
  • Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Moedas MF; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Naess K; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Bruhn H; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Maffezzini C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Calvo-Garrido J; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Lesko N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Wibom R; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Schober FA; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Jemt A; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Freyer C; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Wredenberg A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Hum Mutat ; 42(4): 378-384, 2021 04.
Article in En | MEDLINE | ID: mdl-33502047
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Acidosis, Lactic / Mitochondrial Diseases / NADH, NADPH Oxidoreductases Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Sweden
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Acidosis, Lactic / Mitochondrial Diseases / NADH, NADPH Oxidoreductases Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Sweden