妊娠合并家族性高胆固醇血症一例报告并文献复习
摘要
家族性高胆固醇血症（familial hypercho].esterolemia, FH）是一种低密度脂蛋白受体（LDL—R）缺陷的常染色体显性遗传性疾病，其分子基础是位于19号染色体19p13．2位点上的LDL—R基因突变，导致LDL—R不能表达!戈者结构功能异常，从而引起血浆低密度脂蛋白水平升高。
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2011年第6期457-459,共3页
Chinese Journal of Obstetrics and Gynecology
参考文献10
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