Figure 2. SOX9 mutations identified in six CD patients included in the study. For each image, a fragment of the wild type (wt) allele with the corresponding codified amino acids is shown (except for C, where the junction between the first exon and intron is depicted). Altered nucleotides in the mutant (mt) allele are depicted in red. A: frame shift mutation of patient 1 due to a 1-bp deletion. B-E: Single-nucleotide change observed in patients 2, 3, 5, and 6,respectively. F: frame shift mutation in patient 8 due to a 1-bp deletion. G: frame shift mutation in patient 9 due to a 7-bp deletion.
