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. 2019 Jan 14;20:14. doi: 10.1186/s12881-018-0725-3

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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. 2 — The pedigree and Sanger identification of the novel mutation. a The black-solid square represents the affected male patient. The black-shadow circle represents the female carrier. Unfilled squares and circles indicate normal males and females respectively. b The Sanger sequencing traces illustrated the NHS c.C4449G, p.Tyr1483Ter mutation in individualsI:2, II:2 and II:3 (hemizygous), and individuals II:5 and III:1 (homozygous)