Table 1.
Clinical phenotype and genotyping of FH
| Indicator | Number of Cases | Proportion (%) | |
|---|---|---|---|
| Clinical Phenotype | Homozygous | 1 | 4.55 |
| Heterozygous | 21 | 95.45 | |
| Genotyping | LDL-R Gene Variation | 13 | 54.17 |
| Apo B Gene Variation | 4 | 16.67 | |
| PCSK9 Gene Variation | 2 | 8.33 | |
| ABCG5 Gene Variation | 1 | 4.17 | |
| ABCC6 Gene Variation | 2 | 8.33 | |
| ABCA1 Gene Variation | 1 | 4.17 | |
| LRP6 Gene Variation | 1 | 4.17 | |
LDL-R: Low-Density Lipoprotein Receptor; Apo B: Apolipoprotein B; PCSK9: Proprotein Convertase Subtilisin/Kexin 9; ABCG5: ATP-Binding Cassette Transporter G5; ABCC6: ATP Binding Cassette Subfamily C Member 6; ABCA1: ATP-Binding Cassette Transporter A1; LRP6: Low-Density Lipoprotein Receptor-Related Protein 6.