Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease intervention
Emil Jørsboe, Mette Korre Andersen, Line Skotte…·Torben F. Hansen
The paper investigates the impact of the LDLR p.G137S variant on metabolic health and cardiovascular disease risk in Greenlanders, finding it increases FH and cardiovascular disease risk in up to 30% of the population.
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