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Article

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

Lipids in health and disease - 20 Jun 2023

Lin Shaoyi, Hu Tingting, Wang Kaihan, Wang Jiaqi, Zhu Yunyun, Chen Xiaomin

Abstract excerpt

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 mutations. This study aimed to confirm the pathogenicity of the LDL receptor (LDLR) c.2160delC variant in FH. METHODS: In this...

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PMID: 37340302
DOI: 10.1186/s12944-023-01848-6
PMCID: PMC10280840

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