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A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee, Ashim; Mutsuddi, Mousumi; Houlden, Henry.
  • Salpietro V; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Efthymiou S; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Manole A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Maurya B; Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
  • Wiethoff S; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Ashokkumar B; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Cutrupi MC; Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, India.
  • Dipasquale V; Department of Paediatrics, University of Messina, Messina, Italy.
  • Manti S; Department of Paediatrics, University of Messina, Messina, Italy.
  • Botia JA; Department of Paediatrics, University of Messina, Messina, Italy.
  • Ryten M; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Vandrovcova J; Department of Information and Communications Engineering, University of Murcia University of Murcia, Murcia, Spain.
  • Bello OD; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Bettencourt C; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Mankad K; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
  • Mukherjee A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Mutsuddi M; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
  • Houlden H; Department of Neuroradiology, Great Ormond Street Hospital for Children, London, UK.
Hum Mutat ; 39(2): 187-192, 2018 02.
Article en En | MEDLINE | ID: mdl-29127725
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ARN Helicasas / ARN Helicasas DEAD-box / Mutación Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ARN Helicasas / ARN Helicasas DEAD-box / Mutación Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article