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

We previously showed that patients without pathogenic variants in the LDLR and PCSK9 genes comprised approximately 40% of familial hypercholesterolemia (FH) cases. Objective: Our aim was to identify novel causative variants in Japanese FH patients.

Source: Journal of Clinical Lipidology - May 20, 2020 Category: Lipidology Authors: Mika Hori, Atsushi Takahashi, Cheol Son, Masatsune Ogura, Mariko Harada-Shiba Tags: Original Research Source Type: research