Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia.

Abstract excerpt

Autosomal dominant familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol levels and an increased risk for atherosclerotic cardiovascular disease. Although rare pathogenic variants in genes encoding the low-density lipoprotein receptor, apolipoprotein B, proprotein convertase subtilisin/kexin 9 are found in more than 80% of molecularly defined patients with FH, a few...

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