Article

Gene-gene interactions protect against Familial Hypercholesterolemia: effect of lost- of-function <i>PCSK9</i> variants

2026-03-26

Abstract excerpt

<h4>Background</h4> Familial hypercholesterolemia (FH) is most frequently caused by pathogenic variants in LDLR , but phenotypic variability suggests the influence of genetic modifiers. <h4>Methods</h4> We investigated a large multigenerational family with FH, combining clinical data, lipid profiles, and genetic analysis with functional studies. LDLR and PCSK9 variants were characterized according to ACMG/Cl...

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Literature Corpus work: 77da87d9-8d31-56c5-834a-69ac38739d53
DOI: 10.64898/2026.03.26.26348145

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