Sequencing chromatographs.

(A) Sequencing chromatographs of the forward sequence of exon 2 spanning the C insertion, which originates the E60X mutation. Subjects VI-6 (+/+) and VI-2 (+/−) are shown compared to a healthy control (−/−). Position of the C insertion is indicated by the arrow. (B) Sequencing chromatographs of the forward sequence of exon 4 spanning the T515A (M172K) mutation. Subjects II-2 (+/+) and I-2 (+/−) are shown compared to a healthy control (−/−). Mutation is indicated by the arrow.