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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann, Saskia B; Meunier, Brigitte; Mestek-Boukhibar, Lamia; van den Broek, Florence; Maldonado, Elaina M; Clement, Emma; Weghuber, Daniel; Spenger, Johannes; Jaros, Zdenek; Taha, Fatma; Yue, Wyatt W; Heales, Simon J; Davison, James E; Mayr, Johannes A; Rahman, Shamima.
Afiliación
  • Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, 85764 Neuherberg, Germany.
  • Meunier B; Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France.
  • Mestek-Boukhibar L; GOSgene Centre for Translational Omics and NIHR GOSH Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • van den Broek F; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Maldonado EM; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Clement E; Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK.
  • Weghuber D; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Jaros Z; Department of Pediatrics, Landesklinikum Zwettl, 3910 Zwettl, Austria.
  • Taha F; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7DQ, UK.
  • Heales SJ; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Neurometabolic Unit, National Hospital for Neurology, Queen Square, London WC1N 3BG, UK; Department of Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N
  • Davison JE; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address: shamima.rahman@ucl.ac.uk.
Am J Hum Genet ; 106(2): 256-263, 2020 02 06.
Article en En | MEDLINE | ID: mdl-32004446
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Cerebelo / Discapacidades del Desarrollo / Fosfotransferasas (Aceptor de Grupo Alcohol) / Liasas de Fósforo-Oxígeno / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Cerebelo / Discapacidades del Desarrollo / Fosfotransferasas (Aceptor de Grupo Alcohol) / Liasas de Fósforo-Oxígeno / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2020 Tipo del documento: Article