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Onset possibility of determination method and its use of Dravet syndrome
Onset possibility of determination method and its use of Dravet syndrome
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机译:确定方法的发病可能性及其在Dravet综合征中的应用
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摘要
Is to provide a method and use for determining with high accuracy the likelihood of onset of Dravet syndrome. Using a sample isolated from a subject, a method of determining the possibility of onset of Dravet syndrome according to the present invention, the presence or absence of a mutation in one type of voltage-gated sodium ion channels Na V 1.1 α-subunit I comprises a step of detecting, the step of detecting the presence or absence of a mutation in type 1 voltage-gated calcium ion channels Ca V 2.1 α subunit.
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机译:提供一种用于高精度确定Dravet综合征发作可能性的方法和用途。使用从受试者中分离的样品,根据本发明的确定Dravet综合征发作的可能性的方法,一种类型的电压门控钠离子通道Na V 1.1 u>中是否存在突变。 Sub>α-亚基I包括检测步骤,即检测1型电压门控钙离子通道Ca V 2.1 Sub>α亚基中是否存在突变的步骤。
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