Rader - Figure 17 - Gain-of-function mutations in PCSK9 reduce LDL receptors and raise LDL-C
As discussed above, these are missense mutations that activate PCSK9, resulting in increased degradation of the LDL receptor, reduced the LDL receptor activity in the liver, and increased levels of LDL-C in the blood.
Rader
J Clin Lipidol.
2012;
