Skip to main content
. 2017 Mar 1;24(3):189–207. doi: 10.5551/jat.RV16008

Fig. 20.

Fig. 20.

Molecular pathogenesis of FH

Genetic mechanism in the pathogenesis of FH is shown here (n = 1,067). Causes of FH are LDL-R mutations (69.7%), PCSK9 gain of function mutations (5.7%), ARH (1.4%) and other unknown mutation (23.2%).