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. 2018 Sep 12;58(3):387–393. doi: 10.2169/internalmedicine.1287-18

Figure 4.

Figure 4.

The genetic analysis results. The SMAD4 mutation in our case was a frameshift of exon 10. As the mutated gene had four deleted bases, the reading frame of the codon was shifted, inducing premature termination of translation.