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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume, Marie-Laure; Jeanne, Médéric; Xue, Li; Blesson, Sophie; Denommé-Pichon, Anne-Sophie; Alirol, Servane; Brulard, Céline; Colin, Estelle; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Parent, Philippe; Donnart, Audrey; Redon, Richard; Bézieau, Stéphane; Rondard, Philippe; Laumonnier, Frédéric; Toutain, Annick.
Afiliação
  • Vuillaume ML; Genetics Department, University Hospital Center, Tours.
  • Jeanne M; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
  • Xue L; Genetics Department, University Hospital Center, Tours.
  • Blesson S; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
  • Denommé-Pichon AS; Institute of Functional Genomics, CNRS UMR5203, INSERM U1191, Montpellier University, Montpellier.
  • Alirol S; Genetics Department, University Hospital Center, Tours.
  • Brulard C; Genetics Department.
  • Colin E; UMR INSERM 1083 - CNRS 6015, Faculty of Medicine, Angers University, Angers, France.
  • Isidor B; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
  • Gilbert-Dussardier B; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
  • Odent S; Platform for Cancer Molecular Biology, University Hospital Center, Tours, France.
  • Parent P; Genetics Department.
  • Donnart A; UMR INSERM 1083 - CNRS 6015, Faculty of Medicine, Angers University, Angers, France.
  • Redon R; Genetics Department, University Hospital Center, Nantes, France.
  • Bézieau S; INSERM, UMR-S 1238, Nantes University, Nantes, France.
  • Rondard P; Genetics Department, University Hospital Center, Poitiers, France.
  • Laumonnier F; EA 3808, Poitiers University, Poitiers.
  • Toutain A; Genetics Department, University Hospital Center, Rennes, France.
Ann Neurol ; 83(2): 437-439, 2018 02.
Article em En | MEDLINE | ID: mdl-29369404
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Rett Limite: Humans Idioma: En Revista: Ann Neurol Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Rett Limite: Humans Idioma: En Revista: Ann Neurol Ano de publicação: 2018 Tipo de documento: Article