Figure 2.

Distribution of the p.Ile278Thr variant among Classical Homocystinuria patients. Presence of the pathogenic variant in countries with at least 10 pathogenic alleles of HCU described in the literature. Countries without at least 10 published HCU alleles, or with no HCU patients genotyped, are presented in white. Gray indicates countries in which the variant p.Ile278Thr was not described among HCU patients