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Article

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

Human mutation - 1 Mar 2001

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

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Source

Identifiers

PMID: 11241852
DOI: 10.1002/humu.15

Genes

RYR1

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.PMID 11241852Read ↗

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermiaSemantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.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 ↗

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.Semantic proximity Read ↗

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

The role of the skeletal muscle ryanodine receptor (RYR1) gene in malignant hyperthermia and central core disease.Semantic proximity Read ↗

[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].Semantic proximity Read ↗

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.Semantic proximity Read ↗

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.Semantic proximity Read ↗

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

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.Semantic proximity Read ↗

North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.Semantic proximity Read ↗

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