Publication | Open Access

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

Signal TransductionSomatic VariantG Protein-coupled ReceptorNatural SciencesMaldi-tof Mass SpectrometryReceptor (Biochemistry)Molecular BiologyGene CharacterizationProtein TransportCellular BiochemistryGene ExpressionMedicineCell BiologyCell SignalingFunctional Characterisation