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. 2017 May 31;7:2514. doi: 10.1038/s41598-017-02554-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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CNV studies in the CACNA1A gene of patient 474. (a) Results from the MLPA analysis performed with Coffalyser. The deleted exon 35 is indicated with an arrow. C: control probe. (b) Deletion breakpoint mapping. Sequence chromatogram corresponding to the homologous fragment from AluY and AluSz sequences. The identical shared sequence by the 5′ and 3′ Alu elements located in introns 34 and 35 that mediated the recombination is framed. Location of fragments taken from UCSC Genome Browser on Human Feb. 2009 Assembly (GRCh37/hg19).