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Article

LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.

Lipids in health and disease - 21 Mar 2024

Wang Kaihan, Hu Tingting, Tai Mengmeng, Shen Yan, Chai Haocheng, Lin Shaoyi, Chen Xiaomin

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in low-density lipoprotein receptor (LDLR), an FH-related gene, is a pathogenic variant in FH by in silico analysis and functional experiments. METHODS: The proband and his family were evaluated using the diagnostic criteria of the Dutch Lipid...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38515137
DOI: 10.1186/s12944-024-02068-2
PMCID: PMC10956282

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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