Figure 4
Electropherogram of PCR products of three MEB families. The normal control (Con) had only the predicted size 2476-bp band, the same as patient 2′s mother (P2M) and patient 3′s father (P3F) with only one missense mutation. Patient 1 (P1) with the homozygous (Homo) CNV had only one smaller size 886-bp band, while patient 1′s parents (P1F, P1M), patient 2 (P2), patient 2′s father (P2F), patient 3 (P3) and patient 3′s mother (P3M) with heterozygous (Heter) CNV had both the predicted size 2476-bp band and the smaller size 886-bp band. Full-length gels are presented in Supplementary Figure S2.
