Article
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.
Anesthesia and analgesia - 1 Oct 2009
Chen Po-Liang, Chang Yao-Wen, Chen Chun-Yu, Hsiang Yung-Chih, Day Yuan-Ji
Abstract excerpt
BACKGROUND: Our primary objective was to detect malignant hyperthermia (MH)-susceptible persons and thereby prevent MH episodes. We identified variants in the ryanodine receptor isoform 1 using molecular pedigree analysis. METHODS: Nineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct...
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