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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
Journal
:
Journal of anesthesia
Date Published
:
2018
ISSN Number
:
0913-8668
URL
:
https://dx.doi.org/10.1007/s00540-018-2451-6
DOI
:
10.1007/s00540-018-2451-6
Short Title
:
J Anesth
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