Rader - Figure 12 - Between-mutation differences in LDL-C
This Figure, taken again from work in Rob Hegele's lab, shows that different missense mutations, meaning single amino acid changes in the LDL receptor, tend on average to cause LDL levels that are slightly lower than nonsense mutations, which tend to obliterate the function of the protein - thus illustrating how the nature of the mutation can affect the circulating LDL-C levels in patients with FH.
Rader
J Clin Lipidol.
2012;
