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家族性高胆固醇血症新致病基因——枯草溶菌素转化酶9的研究进展 被引量：2

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摘要 家族性高胆固醇血症是一种常染色体显性遗传疾病,患者低密度脂蛋白胆固醇大幅度升高,严重者青少年时期可早发冠心病。研究发现该疾病的致病基因存在异质性,其中人类枯草溶菌素转化酶9基因突变可导致严重的家族性高胆固醇血症。该基因属于蛋白转化酶家族,其蛋白结构、功能及致病机制尚不清楚,文章追踪最新研究进展,对该基因导致家族性高胆固醇血症的机制进行综述。
作者 刘舒 蔺洁 王绿娅
机构地区 首都医科大学附属北京安贞医院北京市心肺血管疾病研究所
出处 《中国动脉硬化杂志》 CAS CSCD 2006年第3期260-262,共3页 Chinese Journal of Arteriosclerosis
基金 国家自然科学基金(30470722) 北京市自然科学基金(7062010 7052021) 北京市科技新星(04B27 05A29)项目联合资助
关键词 病理学与病理生理学 枯草溶菌素转化酶9 综述 家族性高胆固醇血症 低密度脂蛋白胆固醇
分类号 R363 [医药卫生—病理学]
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参考文献32

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二级参考文献49

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共引文献14

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二级引证文献9

中国动脉硬化杂志
2006年 第3期

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