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Table 4 Individual LDL-R characteristics of each FH patient those monocytes where analyzed by microarray.

From: Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism

homozygous FH Mutation
Patient 1 C88R (FH Münster 1), D333G (FH Münster 2); < 5% LDL-R activity, binding defect
Patient 2 W556R; < 5% receptor activity (class 2A)
Patient 3 W556R; < 5% receptor activity (class 2A)
Patient 4 W556R; < 5% receptor activity (class 2A)
Patient 5 LDL-R binding defect demonstrated by fibroblast LDL binding assay
Patient 6–8 Diagnosis based on clinical parameters according to the Simon Broome Register Group criteria (xanthomas, lipid profile, familial history)
heterozygous FH  
Patient 9 promoter defect -135 bp C->G, 5–15% activity
Patient 10 C88R (FH Münster 1), 15–30% receptor activity binding defect
Patient 11 D333G (FH Münster 2), 15–30% receptor activity binding defect
Patient 12 C88R (FH Münster 1), 15–30% receptor activity binding defect
Patient 13 LDL-R binding defect demonstrated by fibroblast LDL binding assay
Patient 14 W556R; < 5% receptor activity (class 2A)
Patient 15 insertion of G at 588 bp -> STOP at codon 178
Patients 16 insertion of G at 588 bp -> STOP at codon 178