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. 2022 Oct 1;61(19):2883–2889. doi: 10.2169/internalmedicine.8989-21

Table 1.

Genotype and Lipid Profile of the Proband and Her Family Members.

Patient Genotype Age Sex T-Cho TG HDL-C
Proband c.904T>G/c.907C>T, exon 6 del, LDLR 41 female 523 122 43
II-1* c.904T>G/c.907C>T, LDLR 75 male 205 140 49
II-14 exon 6 del, LDLR 68 female 226 137 91
III-4* exon 6 del, LDLR 49 female 197 490 84
III-6 exon 6 del, LDLR 46 female 323 54 88
III-12 exon 6 del, LDLR 45 male 256 77 63
III-14 41 male 205 336 51
IV-5 c.904T>G/c.907C>T, LDLR 10 male 312 73 81
IV-6 exon 6 del, LDLR 7 female 254 42 51

* Asterisk indicates the patients under lipid lowering therapy.

T-Cho: total cholesterol, TG: triglycerides, HDL-C: High-density lipoprotein cholesterol