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. 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8

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© Magri et al. 2015

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. 3 — ISPD molecular analysis. a Electropherograms depicting the missense mutation c.676 T > C and the intronic substitution c.836-5 T > G. b mRNA analysis reveals the production of two different transcripts: the wild-type transcript, and a shorter transcript that corresponds to an isoform with a lower molecular weight. cDNA cloning demonstrated that the latter isoform corresponds to an isoform lacking exon 6