Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Por Steinrücke, Sofia, Lohmann, Katja, Domingo, Aloysius, Rolfs, Arndt, Bäumer, Tobias, Spiegler, Juliane, Hartmann, Corinna, Münchau, Alexander
Publicado no Neurol Genet (2016)

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Por 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.
Publicado no Hum Mol Genet (2017)