Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

Clinical chemistry - 1 May 2003

Tammaro Angela, Bracco Adele, Cozzolino Santolo, Esposito Maria, Di Martino Antonietta, Savoia Gennaro, Zeuli Laura, Piluso Giulio, Aurino Stefania, Nigro Vincenzo

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes a sudden increase in body temperature after exposure to common anesthetic agents. The disease is genetically heterogeneous, with mutations in t...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Amino Acid Sequence
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Malignant Hyperthermia

Share to Molecular Sequence Data

Share to Nucleic Acid Denaturation

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 12709367
DOI: 10.1373/49.5.761

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12709367-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.PMID 12709367Read ↗

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 ↗

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

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.Semantic proximity Read ↗

Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C).Semantic proximity Read ↗

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.Semantic proximity Read ↗

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

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.Semantic proximity Read ↗

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

Screening for mutations in the RYR1 gene in families with malignant hyperthermia.Semantic proximity Read ↗

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.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 ↗

Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.