Gene symbol: RYR1. Disease: malignant hyperthermia.
Dekomien
G
G
Human Genetics, Ruhr-University, Bochum, Germany. gabriele.dekomien@rub.de
Gencik
M
M
Gencikova
A
A
Klenk
Y
Y
Epplen
J T
JT
D019943:Amino Acid Substitution; D000818:Animals; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D018389:Codon, Nonsense; D019837:Ryanodine Receptor Calcium Release Channel