The three main known genetic mutations in FH impact LDLR (most common), APOB (apolipoprotein B, about 10% of FH cases), or ...

Study: Structure of apolipoprotein B100 bound to the low ... Disruptions in LDLR function or apoB100 mutations, as seen in FH, lead to low-density lipoprotein cholesterol (LDL-C) accumulation ...

Her subsequent activities within the lipid biology field include identifying that mutations of the microsomal triglyceride transfer protein gene cause the devastating condition, Abetalipoproteinemia; ...