Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2200862
- author
- Broman, Marcus ; Heinecke, Kai ; Islander, Gunilla LU ; Schuster, Frank ; Glahn, Klaus ; Bodelsson, Mikael LU ; Treves, Susan and Müller, Clemens
- organization
- publishing date
- 2011
- 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}}, }