Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
| Author | |
|---|---|
| Abstract | 
   :  
              The aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility.  | 
        
| Year of Publication | 
   :  
              2018 
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| Journal | 
   :  
              Journal of anesthesia 
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| Date Published | 
   :  
              2018 
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| ISSN Number | 
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              0913-8668 
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| URL | 
   :  
              https://dx.doi.org/10.1007/s00540-018-2451-6 
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| DOI | 
   :  
              10.1007/s00540-018-2451-6 
           | 
        
| Short Title | 
   :  
              J Anesth 
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