Table 4

FECH mutations identified on only one allele in patients with EPP heterozygous for the IVS3-48C/T SNP

Exon/intronMutationEffectNo. of patientsReference
140delGStop+72 bp1Todd et al37
153delTStop+54 bp1This paper
3IVS3+2T→GSplice defect1Sarkany et al21
4IVS4+1G→CSplice defect2Rufenacht et al6
7734T>CL245P1This paper
9945delAStop+335 bp1This paper
91077G>ASplice defect2This paper