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Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K; Dobricic, Valerija; Hüning, Irina; Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savic-Pavicevic, Dusanka; Münchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.
Affiliation
  • Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Masuho I; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL 33458, USA.
  • Patil DN; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL 33458, USA.
  • Baumann H; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Hebert E; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Steinrücke S; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Trujillano D; Centogene AG, 18057 Rostock, Germany.
  • Skamangas NK; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL 33458, USA.
  • Dobricic V; Neurology Clinic, University of Belgrade, 11000 Belgrade, Serbia.
  • Hüning I; Institut fur Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.
  • Gillessen-Kaesbach G; Institut fur Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.
  • Westenberger A; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Savic-Pavicevic D; Institut fur Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.
  • Münchau A; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Oprea G; Centogene AG, 18057 Rostock, Germany.
  • Klein C; Institute of Neurogenetics, University of Lübeck, 23538?Lübeck, Germany.
  • Rolfs A; Centogene AG, 18057 Rostock, Germany.
  • Martemyanov KA; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.
Hum Mol Genet ; 26(6): 1078-1086, 2017 03 15.
Article in En | MEDLINE | ID: mdl-28087732
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Mutation, Missense / GTP-Binding Protein beta Subunits / Neurons Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Mutation, Missense / GTP-Binding Protein beta Subunits / Neurons Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido