A multi-dimensional analysis of genotype–phenotype discordance in malignant hyperthermia susceptibility

BACKGROUND: Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine–halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance between genetic...

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Bibliografiske detaljer
Udgivet i:Br J Anaesth
Main Authors: Ibarra Moreno, Carlos A., Kraeva, Natalia, Zvaritch, Elena, Figueroa, Lourdes, Rios, Eduardo, Biesecker, Leslie, Van Petegem, Filip, Hopkins, Philip M., Riazi, Sheila
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020
Fag:
Clinical Investigation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7729844/
https://ncbi.nlm.nih.gov/pubmed/32861507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bja.2020.07.042
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