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. 2019 Oct 23;20(6):4915–4924. doi: 10.3892/mmr.2019.10763

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Copyright: © Li et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 2. — Sanger sequencing results of SLC10A1 gene in the two families. (A) Patient 1 and his father were heterozygous for the SLC10A1 variants c.800C>T (p.Ser267Phe) and c.595A>C(p.Ser199Arg) while his mother was a carrier of variant c.800C>T(p.Ser267Phe). (B) Patient 2 was a compound heterozygote of variants c.800C>T(p.Ser267Phe) and c.595A>C(p.Ser199Arg) while her father was a carrier of c.595A>C and her mother was a carrier of c.800C>T. SLC10A1, solute carrier family 10 member 1.