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Novel Ryanodine Receptor Mutation That May Cause Malignant Hyperthermia
Anesthesiology, 09/02/08
Kaufmann A et al. - In a single family, the authors found a transition from a highly conserved thymine to cysteine at position 11953, leading to the exchange of tryptophan to arginine at position 3985. This variant was absent in 100 MH-nonsusceptible individuals.
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