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聚合酶链反应-单链构象多态性分析Kallmann综合征的基因突变 被引量:1

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摘要 目的检测Kallmann综合征位于X染色体p22.3基因KAL-1外显子的突变。方法KAL-1基因外显子突变应用聚合酶链反应-单链构象多态性(PCR-SSCP)技术分析。结果5例Kallmann综合征患者KAL-1基因外显子突变情况,发现2例KAL-1基因外显子5~10缺失。结论Kallmann综合征可能存在KAL-1基因外显子的缺失。
出处 《现代实用医学》 2007年第8期637-638,共2页 Modern Practical Medicine
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