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Mutation Screening of the RYR1 Gene in Malignant Hyperthermia: Detection of a Novel Tyr to Ser Mutation in a Pedigree with Associated Central Cores

Somatic VariantGenetic DisorderMedicineGeneticsNatural SciencesPathologyMolecular BiologyMolecular GeneticsMutation ScreeningDisease Gene IdentificationGene ExpressionMolecular DiagnosticsRyr1 GeneSer Mutation