Figure 2

HRM analysis of TULP1 gene. Difference plot shows c.1495+1G>C mutation in TULP1 gene, with 2 out of 16 samples that clearly differ from the non-carrier samples (grey lines). Sanger sequencing confirmed the presence of the mutation c.1495+1G>C in two patients, one in heterozygosis (blue lines) and the other one in homozygosis (red lines). Note that samples are in triplicates.