Article

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

2024-01-09

Abstract excerpt

<h4>Background: </h4> Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in LDLR , an FH-related gene, is a deleterious mutation in FH by in silico analysis and functional experiments. Methods The proband and his family were evaluated by the diagnostic criteria of the Dutch Lipid Clinic Network. Whole-exo...

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Literature Corpus work: 7011c73b-7912-5116-9227-82afb2545777
DOI: 10.21203/rs.3.rs-3837363/v1

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