Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.
Miao WangLing HongLuyi CaiZiyi ZhangNingdong JiangYijing ChenQian YingLingpeng KongZhiyun WeiYao XuLiping JinPublished in: Molecular biology reports (2024)
Our results provide novel experimental evidence of functional alteration by LDLR variants identified in our study and expand the mutational spectrum of LDLR mutation induced FH.