Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Hypersensitivity and RYR1[original query] |
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JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Human mutation 2013 Jan 34 (1): 184-90. Yasuda Toshimichi, Delbono Osvaldo, Wang Zhong-Min, Messi Maria L, Girard Thierry, Urwyler Albert, Treves Susan, Zorzato Frances |
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. Journal of anesthesia 2018 Jan . Kondo Takashi, Yasuda Toshimichi, Mukaida Keiko, Otsuki Sachiko, Kanzaki Rieko, Miyoshi Hirotsugu, Hamada Hiroshi, Nishino Ichizo, Kawamoto Masas |
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia. British journal of anaesthesia 2022 10 129 (6): 879-888. White Ruth, Schiemann Anja H, Burling Sophie M, Bjorksten Andrew, Bulger Terasa, Gillies Robyn, Hopkins Philip M, Kamsteeg Erik-Jan, Machon Roslyn G, Massey Sean, Miller Dorota, Perry Margaret, Snoeck Marc M J, Stephens Jeremy, Street Neil, van den Bersselaar Luuk R, Stowell Kathryn |
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