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Article

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.

Anesthesiology - 1 Aug 2003

Loke Julian C P, Kraev Natasha, Sharma Parveen, Du GuoGuang, Patel Leena, Kraev Alexander, MacLennan David H

Abstract excerpt

BACKGROUND: To determine whether malignant hyperthermia (MH) susceptibility in a Canadian pedigree is associated with a mutation in the ryanodine receptor subtype 1 (RYR1) gene, the complete RYR1 transcript obtained from the leukocytes of one MH-susceptible family member was sequenced, using a newly developed protocol. METHODS: RNA was extracted from leukocytes and converted into complementary DNA. Overlapping...

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Source

Identifiers

PMID: 12883402
DOI: 10.1097/00000542-200308000-00011

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.PMID 12883402Read ↗

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