Exome sequencing: one small step for malignant hyperthermia, one giant step for our specialty--why exome sequencing matters to all of us, not just the experts.
作者信息
Nagele Peter
机构信息
Department of Anesthesiology and Genetics, Washington University School of Medicine, St. Louis, Missouri.
出版信息
Anesthesiology. 2013 Nov;119(5):1006-8. doi: 10.1097/ALN.0b013e3182a8a90c.
Abstract
摘要
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本文引用的文献
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Using exome data to identify malignant hyperthermia susceptibility mutations.
Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7.
2
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
Anesthesiology. 2013 Nov;119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998.
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Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
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Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
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