Article
Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.
Expert review of molecular diagnostics - 1 Sept 2021
Ibrahim Shirin, Defesche Joep C, Kastelein John J P
Abstract excerpt
Introduction: Familial hypercholesterolemia (FH) is a highly prevalent condition, predisposing individuals to premature cardiovascular disease and with a genetic basis more complex than initially thought. Advances in molecular technologies have provided novel insights into the role of next-generation-sequencing, the assessment and classification of newly found variants, the complex genotype-phenotype correlation,...
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