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. 2021 Mar 12;16:129. doi: 10.1186/s13023-021-01760-1

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© The Author(s) 2021

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 5 — Schematic representation of the methods used for FSHD1 diagnosis. The D4Z4 repeat array is indicated with triangles (in dark blue). D4Z4 repeat units on chromosomes 4 and 10 can be separated because all repeats on 10q contain BlnI restriction sites (whereas all D4Z4 repeats on 4q contain XapI restriction sites) [238]