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Article

A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.

Clinical genetics - 1 May 1995

Alestrøm A, Fagerlund T H, Berg K

Abstract excerpt

To search for the mutations RYR1 G1021A in families where malignant hyperthermia (MH) episodes have occurred, we have used an amplification-created restriction sites (ACRS) technique to detect the mutation. The previously described single-stranded conformation polymorphism (SSCP) technique was laborious and time consuming, but necessary to detect the mutation, whereas the method described here discriminates...

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Source

Identifiers

PMID: 7554356
DOI: 10.1111/j.1399-0004.1995.tb04311.x

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.PMID 7554356Read ↗

RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.Semantic proximity Read ↗

Identification of new polymorphisms in the CACNA1S gene.Semantic proximity Read ↗

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.Semantic proximity Read ↗

Identification of the -92 (C-->T) mutation by the amplification refractory mutation system in southern Italy.Semantic proximity Read ↗

Allele-specific polymerase chain reaction for the detection of single nucleotide polymorphism in amlodipine-induced gingival enlargement.Semantic proximity Read ↗

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.Semantic proximity Read ↗

Increasing the number of diagnostic mutations in malignant hyperthermia.Semantic proximity Read ↗

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.Semantic proximity Read ↗

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