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West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz, Ali Abdullah; Müller, Verena; Boutry-Kryza, Nadia; Ville, Dorothée; Guex, Nicolas; de Bellescize, Julitta; Rivier, Clotilde; Labalme, Audrey; des Portes, Vincent; Edery, Patrick; Till, Marianne; Xenarios, Ioannis; Sanlaville, Damien; Herrmann, Johannes M; Lesca, Gaétan; Reymond, Alexandre.
Afiliação
  • Alfaiz AA; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Müller V; Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland.
  • Boutry-Kryza N; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
  • Ville D; Division of Cell Biology, Department of Biology, University of Kaiserslautern, Kaiserslautern, Germany.
  • Guex N; Department of Constitutional Cytogenetics, Lyon Hospices Civils, Lyon, France.
  • de Bellescize J; Claude Bernard Lyon I University, Lyon, France.
  • Rivier C; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.
  • Labalme A; Center of Reference for Tuberous Sclerosis and Rare Epileptic Disorders, Hospices Civils de Lyon, Lyon, France.
  • des Portes V; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Edery P; Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland.
  • Till M; Department of Pediatric Epileptology, Lyon Hospices Civils, Lyon, France.
  • Xenarios I; Department of Pediatrics, Hopital Nord-Ouest, Villefranche-sur-Saône, France.
  • Sanlaville D; Department of Constitutional Cytogenetics, Lyon Hospices Civils, Lyon, France.
  • Herrmann JM; Claude Bernard Lyon I University, Lyon, France.
  • Lesca G; Center of Reference for Tuberous Sclerosis and Rare Epileptic Disorders, Hospices Civils de Lyon, Lyon, France.
  • Reymond A; Department of Constitutional Cytogenetics, Lyon Hospices Civils, Lyon, France.
Eur J Hum Genet ; 24(7): 1001-8, 2016 07.
Article em En | MEDLINE | ID: mdl-26486472
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Mutação de Sentido Incorreto / Fator G para Elongação de Peptídeos / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Homozigoto Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Mutação de Sentido Incorreto / Fator G para Elongação de Peptídeos / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Homozigoto Idioma: En Ano de publicação: 2016 Tipo de documento: Article