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

Yazar: Steinrücke, Sofia, Lohmann, Katja, Domingo, Aloysius, Rolfs, Arndt, Bäumer, Tobias, Spiegler, Juliane, Hartmann, Corinna, Münchau, Alexander
Yayımlandı Neurol Genet (2016)

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

Yazar: 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.
Yayımlandı Hum Mol Genet (2017)