In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia

In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia

Abstract Background Familial hypercholesterolemia (FH) is an inherited disorder with markedly elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease. Although many mutations have been reported in FH, only a few have been identified as pathogenic mut...

Full description

Bibliographic Details
Main Authors: Shaoyi Lin, Tingting Hu, Kaihan Wang, Jiaqi Wang, Yunyun Zhu, Xiaomin Chen
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Lipids in Health and Disease
Subjects:
Familial hypercholesterolemia
Low-density lipoprotein cholesterol
Low-density lipoprotein receptor
Whole-exome sequencing
Endoplasmic reticulum
Online Access:https://doi.org/10.1186/s12944-023-01848-6

Internet

https://doi.org/10.1186/s12944-023-01848-6

Similar Items