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Article

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

Human mutation - 1 Jan 1998

Manning B M, Quane K A, Lynch P J, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller C R, McCarthy T V

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9450902
DOI: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K

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.

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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.PMID 9450902Read ↗

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

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

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

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Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

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

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

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

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