Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

Hum Mutat. 2000 Jan;15(1):122. doi: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A.

Authors

M Gencik¹, A Gencik, W Mortier, J T Epplen

Affiliation

¹ Molecular Human Genetics, Ruhr-University Bochum, Germany.

PMID: 10612851
DOI: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A

No abstract available

MeSH terms

Amino Acid Substitution
Chromosomes, Human, Pair 19
Humans
Malignant Hyperthermia / genetics*
Molecular Sequence Data
Mutation, Missense
Ryanodine Receptor Calcium Release Channel / genetics*

Substances

Ryanodine Receptor Calcium Release Channel

Associated data

GENBANK/J05200