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Cascade screening of relatives for familiar hypercholesterolemia: detection of low density lipoprotein receptor gene mutations using real-time PCR

Early detection of disease-associated mutations in patients with familial hypercholesterolemia (FH) is crucial for early interventions that can reduce the risk of cardiovascular disease. Here, we describe real-time PCR-based approaches for the rapid detection of single nucleotide substitutions or insertions of the low density lipoprotein receptor gene for cascade screening of relatives. by Sarojini Pandey […]