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Article

Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology - 1 Nov 2013

Gonsalves Stephen G, Ng David, Johnston Jennifer J, Teer Jamie K, Stenson Peter D, Cooper David N, Mullikin James C, Biesecker Leslie G

Abstract excerpt

BACKGROUND: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes. METHODS: Exome sequencing was performed on 870 volunteers not ascertained...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24195946
DOI: 10.1097/ALN.0b013e3182a8a8e7
PMCID: PMC4077354

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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