title: Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
authors.affiliation: Molecular Human Genetics, Ruhr-University Bochum, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Gencik
authors.forename: A
authors.initials: A
authors.lastname: Gencik
authors.forename: W
authors.initials: W
authors.lastname: Mortier
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D019943:Amino Acid Substitution; D002888:Chromosomes, Human, Pair 19; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel