Figure 4.

Comparison of the profiles of ATP7B transcripts between one control and a patient who carries the NG_008806.1(ATP7B_v001):c.2866‐1521G>A intronic variant. (a) Transcripts detected with the primers in exon 5 and exon 14; the longest transcript (NM_000053.4 = 1466 bp) was nearly completely absent in the patient with the intronic variant. (b) With the primer pair designed to amplify exon 7 to 13, the longest transcript (NM_000053.4 = 916 bp) was nearly completely absent in the patient with the intronic variant. This experiment was repeated in triplicate and a representative image is shown