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. 2017 May 9;7:1625. doi: 10.1038/s41598-017-01637-z

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Mutations in ADSL protein. Note: aa, amino acid. Mutations in red are identified in our patients, mutation in green is the hot spot in European population. c.-49T > C, IVS5 -37 C > T and IVS12 + 1 G > C are not included in the figure. Schematic diagram was referred to SMART database (http://smart.embl-heidelberg.de). Mutations are referred to ADSL database (http://www1.lf1.cuni.cz/udmp/adsl/) and HGMD (http://www.hgmd.cf.ac.uk/ac/index.php).