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. 2018 Sep 14;97(37):e12295. doi: 10.1097/MD.0000000000012295

Figure 2.

Figure 2

Gene sequencing analysis. (A) Family pedigree. Three generations (I, II, and III) were recruited in our study. A dark arrow indicates the proband. Square symbols indicate male members. Circle symbols indicate female members. Symbols with a question mark represent family members who are not recruited in our study. Symbols with black color represent family members who carry the mutation and experienced clinically confirmed disease. Symbols with a dot in the middle represent family members who carry the mutation but without clinical disease. (B) The novel mutation in HMBS gene. The mutation shows that 55 bps including original termination codon are removed. The deletion of 55 bps results in frame shift and 3′UTR destruction of HMBS gene. bp = basepair, HMBS = hydroxymethylbilane synthase, UTR = untranslated regions.