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

Broman, Marcus ; Heinecke, Kai ; Islander, Gunilla LU ; Schuster, Frank ; Glahn, Klaus ; Bodelsson, Mikael LU ; Treves, Susan and Müller, Clemens (2011) In Anesthesia and Analgesia 113(5). p.1120-1128
Abstract
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.
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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Anesthesia and Analgesia
volume
113
issue
5
pages
1120 - 1128
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000296236200029
  • pmid:21965348
  • scopus:80055085351
  • pmid:21965348
ISSN
1526-7598
DOI
10.1213/ANE.0b013e318228293e
language
English
LU publication?
yes
id
b6d1a7cc-3c51-49fc-9983-a2dcf2507e14 (old id 2200862)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21965348?dopt=Abstract
date added to LUP
2016-04-04 09:40:37
date last changed
2022-01-29 18:59:40
@article{b6d1a7cc-3c51-49fc-9983-a2dcf2507e14,
  abstract     = {{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.}},
  author       = {{Broman, Marcus and Heinecke, Kai and Islander, Gunilla and Schuster, Frank and Glahn, Klaus and Bodelsson, Mikael and Treves, Susan and Müller, Clemens}},
  issn         = {{1526-7598}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{1120--1128}},
  publisher    = {{Lippincott Williams & Wilkins}},
  series       = {{Anesthesia and Analgesia}},
  title        = {{Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.}},
  url          = {{http://dx.doi.org/10.1213/ANE.0b013e318228293e}},
  doi          = {{10.1213/ANE.0b013e318228293e}},
  volume       = {{113}},
  year         = {{2011}},
}