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Article

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

Journal of anesthesia - 1 Jan 2009

Migita Takako, Mukaida Keiko, Hamada Hiroshi, Yasuda Toshimichi, Haraki Toshiaki, Nishino Ichizo, Murakami Nobuyuki, Kawamoto Masashi

Abstract excerpt

PURPOSE: Malignant hyperthermia (MH) is a pharmacogenetic disorder of intracellular calcium homeostasis with an autosomal dominant inheritance. Most of the reported mutations in exon 47 were identified in Asian patients. However, no functional analysis of p.R2508C has been performed. We therefore conducted a functional analysis of the mutation by altering calcium homeostasis in human embryonic kidney (HEK) 293...

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Source

Identifiers

PMID: 19685112
DOI: 10.1007/s00540-009-0746-3

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.

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Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.PMID 19685112Read ↗

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