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Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia

机译:韩国家族性高胆固醇血症患者多基因原因的评估

摘要

The present invention relates to a method for providing information on the diagnosis or prediction of familial hypercholesterolemia using a novel single nucleotide polymorphism combination, wherein the combination of single nucleotide polymorphic markers according to the present invention is a family member Patients who were not diagnosed with cholesterolemia could also be diagnosed with familial hypercholesterolemia, thereby increasing the accuracy and sensitivity of the method compared to conventional methods, thereby enabling early diagnosis of patients with familial hypercholesterolemia It is expected to play an important role in preventing the occurrence of various complications.;
机译:本发明涉及使用新颖的单核苷酸多态性组合提供有关家族性高胆固醇血症的诊断或预测的信息的方法,其中根据本发明的单核苷酸多态性标志物的组合是家庭成员未诊断出患有胆固醇血症的患者还可以被诊断为家族性高胆固醇血症,从而与传统方法相比提高了该方法的准确性和灵敏性,从而能够对家族性高胆固醇血症患者进行早期诊断。有望在预防各种并发症的发生中发挥重要作用。

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