To fire the train: a second malignant-hyperthermia gene.
作者信息
Hogan K
出版信息
Am J Hum Genet. 1997 Jun;60(6):1303-8. doi: 10.1086/515483.
Abstract
摘要
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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.恶性高热易感性与人类骨骼肌中对二氢吡啶敏感的L型电压依赖性钙通道受体α1亚基的突变有关。
Am J Hum Genet. 1997 Jun;60(6):1316-25. doi: 10.1086/515454.
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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.在一个大家系中鉴定携带新型RYR1突变Cys35Arg的杂合子和纯合子个体。
Anesthesiology. 1997 Mar;86(3):620-6. doi: 10.1097/00000542-199703000-00014.
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An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia.用于确定恶性高热易感性的体外挛缩试验预测概率分析。
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Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family.在一个大型曼尼托巴门诺派家族中，对RYR1基因C1840T突变的分离情况与咖啡因/氟烷挛缩试验结果（用于恶性高热易感性）的分离情况进行比较。
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