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. 2019 Aug 29;20:147. doi: 10.1186/s12881-019-0879-7

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© The Author(s). 2019

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. 1 — Pedigree and segregation analysis of the SLC29A3 gene mutation (c.307-308delTT). All four patients (III.2, III.5, III.8, and III.11) are homozygote mutants, whereas parents of proband (II.1 and II.2) are heterozygote. Furthermore, sequence analysis of the three normal siblings of the patients in two families revealed that two of them (III.1 and III.6) are heterozygote and one (III-9) is normal