Figure 1.
The Comparison of Detection Rate of FH-Associated Variants in Index Cases According to Different Sequencing Strategies
Three genes refers to LDLR, APOB, and PCSK9. Nine genes refers to LDLR, APOB, PCSK9, LDLARP1, APOE, LIPA, STAP1, and ABCG5/8. ABCG5/8 = ATP-binding cassette transporter family members 5 and 8; APO = apolipoprotein; CNV = copy number variant; FH = familial hypercholesterolemia; LDLR, low-density lipoprotein receptor; LIPA = lipase A; PCSK9 = proprotein convertase subtilisin/kexin type 9. STAP1 = signal transducing adaptive family member 1.