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Charcot-Marie-Tooth Disease Type 2A of the detection method
Charcot-Marie-Tooth Disease Type 2A of the detection method
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机译：Charcot-Marie-Tooth Disease 2A型的检测方法
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摘要
In order to diagnose the factor which emerges, method is disclosed the shiyaruko marry tooth illness or in the shiyaruko marry tooth illness or the suffering body by detecting the presence of mutation of the mitofusin gene in the living thing sample which was picked from the suffering body, concerning the risk of shiyaruko marry tooth illness 2A type in order the screening to do the suffering body. In addition as for method, expanding mitofusin gene arrangement in the nuclear acid of the patient, cause the expansion product; It is disclosed in order to detect the existence of the be inherited multi types which it is related to the shiyaruko marry tooth illness 2A type in the nuclear acid sample of the patient and by the identification of existence of shiyaruko marry tooth illness 2A type-related multi types in the expansion product.
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