Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

@article{Merritt2017AssessingTP,
  title={Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.},
  author={A. Merritt and P. Booms and M. Shaw and D. Miller and C. Daly and J. G. Bilmen and K. Stowell and P. Allen and D. Steele and P. Hopkins},
  journal={British journal of anaesthesia},
  year={2017},
  volume={118 4},
  pages={
          533-543
        }
}
Background . Missense variants in the ryanodine receptor 1 gene ( RYR1 ) are associated with malignant hyperthermia but only a minority of these have met the criteria for use in predictive DNA diagnosis. We examined the utility of a simplified method of segregation analysis and a functional assay for determining the pathogenicity of recurrent RYR1 variants associated with malignant hyperthermia. Methods . We identified previously uncharacterised RYR1 variants found in four or more malignant… Expand
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References

SHOWING 1-10 OF 33 REFERENCES
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
  • 83
Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations
  • 59
  • PDF
Increasing the number of diagnostic mutations in malignant hyperthermia
  • 62
The role of CACNA1S in predisposition to malignant hyperthermia
  • 102
  • PDF
...
1
2
3
4
...