王伟,杨娅,王蒨,于薇,袁慧,杨士伟,周玉杰,王绿娅

• 1:首都医科大学附属北京安贞医院
• 2:北京市心肺血管疾病研究所动脉硬化研究室
• 3:黑龙江省农垦总局总医院康复科
• 4:首都医科大学附属北京安贞医院

摘要(Abstract)：

<正>家族性高胆固醇血症(familial hypercholesterolemia,FH)是一种常染色体显性遗传病,其主要临床特征包括:低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C)水平极度升高、皮肤肌腱等多部位出现黄色瘤、早发冠心病和全身严重的动脉粥样硬化(atherosclerosis,As)[1-2]。三个主要致病基因为:低密度脂蛋白受体(low density lipoprotein receptor,

关键词(KeyWords)： 多学科;纯合子;家族性高胆固醇血症;安贞医院

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金资助项目(81471098、81670811、81670314)

作者(Author): 王伟,杨娅,王蒨,于薇,袁慧,杨士伟,周玉杰,王绿娅

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