Figure 2

Genotype-Phenotype-Correlation in PEX1 patients with known survival. Patients were grouped according to their genotypes into patients with missense mutations (M) on both alleles (type 1, MM), with premature termination codons (PTCs, P) on both alleles (type 3, PP), or with a combination of a PTC with a missense mutation (type 2, MP). To limit the genotypic classes to three, we grouped short insertions that do not result in PTC together with M, and more extensive deletions together with the P alleles. 5' polymorphisms are marked in color. Numbers in circles refer to ZS patient numbers as in Table 1. Patients with survival of more than 100 months were alive at the time of submission of the manuscript.