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Author

Neila Rodríguez Roca

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Open access Sep 2026

Putative protective role of PCSK9 variants in a multigenerational family with familial hypercholesterolemia

Background Familial hypercholesterolemia (FH) is most frequently caused by pathogenic variants in LDLR, but phenotypic variability suggests the influence of genetic modifiers. Methods We investigated a large multigenerational family with FH, combining clinical data, lipid profiles, and genetic analysis with functional...

S. Rodríguez-Nóvoa, Pedro Martínez Hernández, Irene Hidalgo Mayoral et al. · 0 citations

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