Figure 2
From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Investigation of cDNA obtained from patients (P). A: Patients with duplication of 2 exons and atypical MD (P2; P3; P4 and P5) or OHS (P1) phenotypes. B and C: Patients with duplication of a region containing more than 2 exons and classical MD. The cDNA fragments expected to contain the duplicated exons were amplified by PCR (see Materials and Methods). The corresponding fragments from a control cell culture (C) were investigated in parallel. Hyperladder I was used as a marker (M).