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. 2018 Apr 10;13:52. doi: 10.1186/s13023-018-0792-8

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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. 1 — GLA mRNA levels (a) and Western blot of α-Gal A and actin (b) measured in leukocyte extracts of samples from subjects #115 and #116. In panel A, bars represent relative levels of mRNA expression (ΔΔCts) normalized to the control. Two different controls (healthy volunteers’ samples) were used in independent experiments (control bar). In panel B, Control (−) represents the sample from a healthy volunteer and Control (+) represents the sample from a patient diagnosed with FD carrying a missense pathogenic mutation