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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Iuso, Arcangela; Alhaddad, Bader; Weigel, Corina; Kotzaeridou, Urania; Mastantuono, Elisa; Schwarzmayr, Thomas; Graf, Elisabeth; Terrile, Caterina; Prokisch, Holger; Strom, Tim M; Hoffmann, Georg F; Meitinger, Thomas; Haack, Tobias B.
Afiliación
  • Iuso A; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Alhaddad B; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Weigel C; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Kotzaeridou U; Department of Paediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
  • Mastantuono E; Division of Neuropediatrics and Pediatric Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Terrile C; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hoffmann GF; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München, Munich, Germany.
JIMD Rep ; 44: 1-7, 2019.
Article en En | MEDLINE | ID: mdl-29923093
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article