Figure 4.

A: The nucleotide sequence of the region corresponding to the codon deletion in the first LDLR type A domain in the patient. B: The organization of the protein and the gene encoding TCblR. C: Normalization of holo-TC uptake in cells transfected with patient’s cDNA that has the missing codon (GAG) inserted by site directed mutagenesis. The cDNA in pcDNA3.1 plasmid (4 µg) was transfected into HEK 293 cells seeded at a density of 0.6 × 10⁶/well in six-well plates. Binding and uptake of holo-TC was determined 48 hr after transfection for 1 hr at 37°C as described for Figure 1A