RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia
Titel:
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia
Auteur:
van den Bersselaar, L.R. Greven, T. Bulger, T. Voermans, N.C. van Petegem, F. Schiemann, A.H. Parker, R. Burling, S.M. Jungbluth, H. Stowell, K.M. Kamsteeg, E.J. Snoeck, M.M.J.