Figure 1 | European Journal of Human Genetics
(a) Pedigree of the ID family, Electrophoregram of the KCNC1 nonsense mutation (p.(Arg339Ter)) (indicated by the symbol Y) identified in one, three, and four family members. (b) Consequence of the nonsense mutation at the mRNA level. Analysis of KCNC1 mRNA extracted from fibroblasts by real-time quantitative reverse-transcriptase PCR. Ctrl: controls (n=13). Patient: 3.