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FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Schuch, Luise A; Forstner, Maria; Rapp, Christina K; Li, Yang; Smith, Desiree E C; Mendes, Marisa I; Delhommel, Florent; Sattler, Michael; Emiralioglu, Nagehan; Taskiran, Ekim Z; Orhan, Diclehan; Kiper, Nural; Rohlfs, Meino; Jeske, Tim; Hastreiter, Maximilian; Gerstlauer, Michael; Torrent-Vernetta, Alba; Moreno-Galdó, Antonio; Kammer, Birgit; Brasch, Frank; Reu-Hofer, Simone; Griese, Matthias.
Afiliación
  • Schuch LA; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
  • Forstner M; German Center for Lung Research (DZL), Munich, Germany.
  • Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
  • Li Y; German Center for Lung Research (DZL), Munich, Germany.
  • Smith DEC; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
  • Mendes MI; German Center for Lung Research (DZL), Munich, Germany.
  • Delhommel F; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
  • Sattler M; German Center for Lung Research (DZL), Munich, Germany.
  • Emiralioglu N; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Taskiran EZ; Amsterdam Gastroenterology & Metabolism, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Orhan D; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Kiper N; Amsterdam Gastroenterology & Metabolism, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Rohlfs M; Institute of Structural Biology, Helmholtz Zentrum München, Neuherberg, Germany.
  • Jeske T; Center for Integrated Protein Science Munich, Department of Chemistry, Technical University of Munich, Garching, Germany.
  • Hastreiter M; Institute of Structural Biology, Helmholtz Zentrum München, Neuherberg, Germany.
  • Gerstlauer M; Center for Integrated Protein Science Munich, Department of Chemistry, Technical University of Munich, Garching, Germany.
  • Torrent-Vernetta A; Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Moreno-Galdó A; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Kammer B; Department of Pediatric Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Brasch F; Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Reu-Hofer S; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
  • Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.
Clin Genet ; 99(6): 789-801, 2021 06.
Article en En | MEDLINE | ID: mdl-33598926
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina-ARNt Ligasa / Enfermedad de Charcot-Marie-Tooth / Enfermedades Pulmonares Intersticiales / Pulmón / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina-ARNt Ligasa / Enfermedad de Charcot-Marie-Tooth / Enfermedades Pulmonares Intersticiales / Pulmón / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca