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Updated: Jul 5, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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影响低密度脂蛋白代谢的新型LDLR变异在家族性高胆固醇血清症中被发现

Miao Wang1, Ling Hong1, Luyi Cai1

  • 1Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Clinical and Translational Research Center, Department of Assisted Reproduction, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, China.

Molecular biology reports
|January 18, 2024
PubMed
概括

这项研究确定了中国家族高胆固醇血症 (FH) 家庭中的两个低密度脂蛋白受体 (LDLR) 基因变异. 功能分析显示,这些变体会损害胆固醇代谢,导致FH疾病.

关键词:
家庭性高胆固醇血症是什么?功能分析是一种功能分析.基因突变 基因突变低密度脂蛋白受体的受体是低密度脂蛋白受体.

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