Fig. 2 | Genetics in Medicine

Fig. 2

From: Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Fig. 2

Sanger sequencing of the polymerase chain reaction (PCR) product encompassing exons 4–6. The sequence shows the insertion of a fragment corresponding to a portion of intron 4 into the FECH transcript. The upper panel shows the beginning of the inserted sequence, the middle panel highlights the presence of a stop codon, and the bottom panel shows the junction with exon 4.

Back to article page