Skip to main content
Fig. 2 | Respiratory Research

Fig. 2

From: EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension

Fig. 2

Pedigree of HPAH family. Affected individuals have filled symbols, healthy individuals empty symbols. Age, mutation status and age of PAH onset are provided below. Patient III:3 received a lung transplantation one year after diagnosis and died of transplant rejection one year later. The BMPR2 mutation leads to a premature stop codon and the EIF2AK4 mutation to a splice site change and subsequent loss of exon 38 presumably followed by a frame shift and premature insertion of a stop codon

Back to article page