家族性高胆固醇血症基因治疗现状
摘要
家族性高胆固醇血症（FH）是一种由低密度脂蛋白（LDL）受体基因突变引起的常染色体显性遗传病，生化指标上表现为血浆总胆固醇和LDL胆固醇水平极度升高，临床表现为黄色瘤和早发冠心病等。对于杂合子型，患者1条同源基因存在突变，只能产生一半具有正常结构和功能的受体，
出处
《医学信息（中旬刊）》
2011年第2期799-801,共3页
Medical Information Operations Sciences Fascicule
参考文献18
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