Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
作者信息
McArdle Erin J, Kunic Jennifer D, George Alfred L
机构信息
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee.
出版信息
Am J Med Genet A. 2008 Sep 15;146A(18):2421-3. doi: 10.1002/ajmg.a.32448.
Abstract
摘要
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Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.婴儿严重肌阵挛癫痫中新型SCN1A移码突变与截短型Nav1.1蛋白缺失
Am J Med Genet A. 2008 Sep 15;146A(18):2421-3. doi: 10.1002/ajmg.a.32448.
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