The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln)

Mika Hori, Atsushi Takahashi, Cheol Son, Masatsune Ogura, Mariko Harada‐Shiba

2020Journal of clinical lipidology26 citationsDOI

Topics & Concepts

PCSK9Apolipoprotein BFamilial hypercholesterolemiaGeneticsExome sequencingGeneLDL receptorMedicineAllelePopulationBiologyMutationInternal medicineCholesterolLipoproteinEnvironmental healthLipoproteins and Cardiovascular HealthDiabetes, Cardiovascular Risks, and LipoproteinsCholesterol and Lipid Metabolism

The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G&gt;A: p.(Arg3527Gln)

Topics & Concepts

The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln)