Assessing the pathogenicity of RYR1 variants in malignant hyperthermia

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 d...

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Bibliografiske detaljer
Udgivet i:Br J Anaesth
Main Authors: Merritt, A., Booms, P., Shaw, M.-A., Miller, D.M., Daly, C., Bilmen, J.G., Stowell, K.M., Allen, P.D., Steele, D.S., Hopkins, P.M.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
Fag:
Clinical Practice
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906626/
https://ncbi.nlm.nih.gov/pubmed/28403410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bja/aex042
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