The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia

Hu, HC; Chen, RY; Hu, YC; Wang, J; Lin, SY; Chen, XM

Lin, SY; Chen, XM (corresponding author), Ningbo Univ, Sch Med, Ningbo, Zhejiang, Peoples R China.; Lin, SY; Chen, XM (corresponding author), Ningbo First Hosp, Dept Cardiol, Ningbo, Zhejiang, Peoples R China.

LIPIDS IN HEALTH AND DISEASE, 2021; 20 (1):

Abstract

Background As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly attributed to disease-causing variants in the low-density l......

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