Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

Hum Mutat. 2001 Mar;17(3):238. doi: 10.1002/humu.15.

Authors

H Rueffert¹, H Kraus, D Olthoff, C Deutrich, U G Froster

Affiliation

¹ Department of Anaesthesiology and Intensive Care Medicine, University of Leipzig, Germany.

PMID: 11241852
DOI: 10.1002/humu.15

No abstract available

MeSH terms

DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Humans
Malignant Hyperthermia / genetics*
Malignant Hyperthermia / pathology
Mutation
Mutation, Missense
Ryanodine Receptor Calcium Release Channel / genetics*

Substances

Ryanodine Receptor Calcium Release Channel
DNA