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Article

Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2021

Yeh Huei-Ming, Liao Min-Hua, Chu Chun-Lin, Lin Yin-Hung, Sun Wei-Zen, Lai Ling-Ping, Chen Pei-Lung

Abstract excerpt

BACKGROUND/PURPOSE: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disease with only two known causative genes, RYR1 and CACNA1S. Both are huge genes containing numerous exons, and they reportedly only account for 50-70% of known MH patients. Next-generation sequencing (NGS) technology and bioinformatics could help delineate the genetic diagnosis of MH and several MH-like clinical...

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Identifiers

PMID: 32919876
DOI: 10.1016/j.jfma.2020.08.028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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