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Article

LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a common inherited metabolic disease that causes premature atherosclerosis, cardiovascular disease, and even death at a young age. Approximately 95% of FH-causing genetic ...

Jialing Deng, Ju Zhang, Shirui Meng, Nan Ding, Yu Hao… in Lipids in Health and Disease (2024)