Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
Author | |
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Abstract |
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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 |
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2018
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Journal |
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Journal of anesthesia
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Date Published |
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2018
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ISSN Number |
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0913-8668
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URL |
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https://dx.doi.org/10.1007/s00540-018-2451-6
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DOI |
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10.1007/s00540-018-2451-6
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Short Title |
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J Anesth
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