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. 2017 Jun 26;7:4218. doi: 10.1038/s41598-017-04441-x

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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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Schematic representation of effects of Skeletal Dysplasia mutations on FLN. In summary our results reveal that shear forces break a tight interaction between domains 16 and 17. Dysplasia associated mutations affect the structure of domains 16-17 either by destabilizing the internal structure of domain 17 or transforming 16-17 fragment from compact to an elongated form.