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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; van Gassen, Koen L I; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A; Sacher, Michael; van Hasselt, Peter M.
Afiliação
  • Milev MP; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Graziano C; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Kuper WFE; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Al-Deri N; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Cordelli DM; Pediatric Neurology Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Haack TB; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Danhauser K; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Iuso A; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Palombo F; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Pippucci T; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Prokisch H; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Saint-Dic D; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Seri M; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Stanga D; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Cenacchi G; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • van Gassen KLI; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Zschocke J; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Fauth C; Department of Biomedical and Neuromotor Science, Alma Mater, University of Bologna, Bologna, Italy.
  • Mayr JA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Sacher M; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • van Hasselt PM; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
J Med Genet ; 55(11): 753-764, 2018 11.
Article em En | MEDLINE | ID: mdl-30120216
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rab de Ligação ao GTP / Alelos / Fibroblastos / Transtornos do Neurodesenvolvimento / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rab de Ligação ao GTP / Alelos / Fibroblastos / Transtornos do Neurodesenvolvimento / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá