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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. 2 — Identification of TTTTA/TTTCA expansions in MARCH6. a Schematic representation of the region where the expansion occurs in intron 1 of MARCH6 on chromosome 5p15.2. Blue boxes (1–26) represent MARCH6 exons. The yellow rectangle indicates the TTTTA repeats while the red rectangle represents the TTTCA repeats. Yellow (5ʹ-AAAAT assay) and red (3ʹ-TTTCA assay) arrows indicate primers used for the repeat-primed PCR assays while green arrows schematize the universal primer used in the assay (P3). b Number of TTTTA (actual repeated motif searched for: AAAAT, panel above, yellow) and TTTCA (actual repeated motif searched for: AAATG, panel below, red) repeats identified by ExpansionHunter from Illumina short-read genome data of three affected individuals (1-III-16, 1-IV-11, 1-III-20) and one healthy spouse (1-III-14) of Family 1 and another FAME family linked to FAME2 on chr2 (Family 5). Dark and light bars indicate allele 1 and allele 2, respectively. c Results of 5ʹ-AAAAT (left panels) and 3ʹ-TTTCA (right panels) RP-PCR assays in a control individual (healthy blood donor) and two affected individuals (1-III-16 and 1-IV-11) of Family 1