Gene symbol: RYR1. Disease: malignant hyperthermia

Hum Genet. 2005 Dec;118(3-4):541.

Authors

G Dekomien¹, M Gencik, A Gencikova, Y Klenk, J T Epplen

Affiliation

¹ Human Genetics, Ruhr-University, Bochum, Germany. [email protected]

PMID: 16521280

No abstract available

MeSH terms

Amino Acid Substitution
Animals
Codon, Nonsense
DNA Mutational Analysis
Humans
Malignant Hyperthermia / genetics*
Mutation, Missense*
Ryanodine Receptor Calcium Release Channel / genetics*

Substances

Codon, Nonsense
Ryanodine Receptor Calcium Release Channel