The LDL receptor defects cause the elevation LDLcholesterol in plasma. This is the main reason for atherosclerosis and is closely related to the risk of coronary heart disease (CHD).
LDL受体介导的低密度脂蛋白胆固醇水平的升高是致动脉性粥样硬化的主要原因，与冠心病危险性的增加密切相关。
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