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. 2018 Mar 2;19:34. doi: 10.1186/s12881-018-0540-x

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© The Author(s). 2018

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — a Chromatograms of DNA sequence changes in the MPDZ gene in this family. A compound heterozygous variant in the child c.394G > A (left panels), inherited from his mother and a second c.1744C > G variant (right panels) inherited from his father. Parents are both carriers for each variant (Red arrows indicate the positions of the variants). b Chromatograms of cDNA from the mother, child and a healthy control, showing the wild nucleotide (G) at position c.394 of MPDZ gene (indicated by a red arrow)