Figure 4.
Mutations in the PEX gene. PEX exons are represented as boxes numbered 1–22, and the different mutations detected are drawn schematically above and below the gene. Stop mutations, missense mutations, and splice site mutations are represented above the gene, and frameshift mutations and deletions (thick black lines) below. Conserved cysteine residues (C) and zinc-binding motifs (Zn) are also represented.
