Figure 1.

Mutations identified in four patients with Type I Methemoglobinemia A. Schematic display of the mutations identified in CYB5R3 in the 4 subjects. The coding region is shown in orange, the 5’ and 3’ non-coding regions are shown in blue. The mutations are color coded to depict the ethnic background of the subjects. B. Allelic distribution of CYB5R3 coding region in a Greek subject with multiple mutations. P44P is in cis with F157C and in trans with V253M.