title: Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1).
authors.affiliation: Department of Anaesthesiology and Intensive Care Medicine, University of Leipzig, Germany. ruef@medizin.uni-leipzig.de
authors.forename: H
authors.initials: H
authors.lastname: Rueffert
authors.forename: D
authors.initials: D
authors.lastname: Olthoff
authors.forename: C
authors.initials: C
authors.lastname: Deutrich
authors.forename: H
authors.initials: H
authors.lastname: Kraus
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D008305:Malignant Hyperthermia / Q000235:genetics; D008715:Methionine / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D008715:Methionine; D014633:Valine