Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.

doi:10.1126/science.1862346

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.

Science (New York, N.Y.) - 26 Jul 1991

Fujii J, Otsu K, Zorzato F, de Leon S, Khanna V K, Weiler J E, O'Brien P J, MacLennan D H

Abstract excerpt

Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of l...

Topics

Amino Acid Sequence
Animals
Base Sequence
Codon
Haplotypes
Malignant Hyperthermia
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Receptors, Cholinergic
Restriction Mapping
Ryanodine
Ryanodine Receptor Calcium Release Channel
Species Specificity
Swine
Swine Diseases

Source

Open in PubMed

Identifiers

PMID: 1862346
DOI: 10.1126/science.1862346

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1862346-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics