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Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
- Broman, Marcus (author)
- Heinecke, Kai (author)
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- Islander, Gunilla (author)
- Lund University,Lunds universitet,Anestesiologi och intensivvård,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Anesthesiology and Intensive Care,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Schuster, Frank (author)
- Glahn, Klaus (author)
- Treves, Susan (author)
- Müller, Clemens (author)
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- (creator_code:org_t)
- 2011
- 2011
- English.
- In: Anesthesia and Analgesia. - 1526-7598. ; 113:5, s. 1120-1128
- Journal article (peer-reviewed)
Abstract
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- A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study, we applied the High Resolution Melting (HRM) curve analysis as a tool to screen the entire coding region of the gene.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Anestesi och intensivvård (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Anesthesiology and Intensive Care (hsv//eng)
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