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. 2019 Oct 29;10:4919. doi: 10.1038/s41467-019-12763-9

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© The Author(s) 2019

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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Fig. 6 — Expansions do not affect MARCH6 expression in blood or skin. a Schematic representation of the MARCH6 transcript isoforms. The site of the expansion is indicated by the red box. Arrows indicate primer pairs used to quantify MARCH6 gene expression. b Results of real-time RT-PCR in blood from expansion carrier (n = 12) versus healthy (n = 10) individuals with primers specific of exons 7–8 (left) and exons 14–15 (right). c Results of real-time RT-PCR in fibroblasts from expansion carrier (n = 4) versus unrelated control (n = 4) individuals with primers specific of exons 7–8 (left) and exons 14–15 (right). d Results of real-time RT-PCR in blood from expansion carrier (n = 12) versus healthy (n = 10) individuals with primers located in intron 1 before (left) or after (right) the expansion. e Results of real-time RT-PCR in fibroblasts from expansion carrier (n = 4) versus unrelated control (n = 4) individuals with primers located in intron 1 before (left) or after (right) the expansion. Box plots elements are defined as follows: center line: median; box limits: upper and lower quartiles; whiskers: 1.5× interquartile range; all values are displayed as points; outliers are shown as disconnected points. Statistical comparisons were done using a Wilcoxon–Mann–Whitney rank-sum test (two-sided)