Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia
Ruth Moore White, Anja Schiemann, Sophie M. Burling, Andrew R. Bjorksten, Terasa Bulger, Robyn Gillies, Philip M. Hopkins, Erik‐Jan Kamsteeg, Roslyn G. Machon, Sean Massey, Dorota Miller, Margaret Perry, Marc Snoeck, Jeremy Stephens, Neil Street, Luuk R. van den Bersselaar, Kathryn M. Stowell
Topics & Concepts
RYR1Malignant hyperthermiaRyanodine receptorCentral core diseaseIn silicoBiologyCompound heterozygosityGeneticsBioinformaticsGeneMedicineReceptorPathologyMutationIon channel regulation and functionbioluminescence and chemiluminescence researchErythrocyte Function and Pathophysiology