Fig. 3
From: EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension
Effect of the EIF2AK4 mutation c.4892+1G>T on cDNA level. Next to the ladder the affected individual II:4 shows a heterozygous PCR product for the cDNA of EIF2AK4 exons 36–39. The upper band shows the wildtype sequence (266 bp) while the lower band shows a product without exon 38 (147 bp). The healthy family member III:4 is homozygous for the wild type PCR product indicating no loss of exon 38