Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
Gencik
M
M
Molecular Human Genetics, Ruhr-University Bochum, Germany.
Gencik
A
A
Mortier
W
W
Epplen
J T
JT
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*
D019837:Ryanodine Receptor Calcium Release Channel