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GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations

Katharina Hauf, Lukas Barsch, Daniel Bauer, Rebecca Buchert, Anja Armbruster, Leonie Frauenfeld, Ute Grasshoff, Volker Eulenburg

2020Neurochemistry International10 citationsDOIOpen Access PDF

Topics & Concepts

BiologyMutationPoint mutationTransmembrane domainAmino acidBiochemistryGeneticsGeneIon channel regulation and functionDrug Transport and Resistance MechanismsGenetics and Neurodevelopmental Disorders