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.
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An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia.
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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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.
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