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

Table 1. Incidence of FH gene mutant alleles in autosomal dominant FH.

Genetic hypercholesterolemia FH classification FH gene mutation Homozygote (n), (%) Heterozygote (n), (%) Total mutant alleles (n), (%)
Autosomal dominant hypercholesterolemia (ADH) ADH1 LDL-R 69 (84.1%) 757 (71.8%) 826 (72.6%)
ADH2 APO-B 0 (0%) 0 (0%) 0 (0%)
ADH3 PCSK9 13 (15.9%) 62 (5.9%) 75 (6.6%)
ADH4 STAP1 * 0 (0%) 0 (0%) 0 (0%)
Unknown 0 (0%) 236 (22.4%) 236 (20.8%)

Total 82 (100%) 1055 (100%) 1137 (100%)

FH genes: LDL-R gene, apolipoprotein B-100 (Apo-B) gene, PCSK9 gene and STAP1

STAP1*: not studied