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. 2015 Oct 5;16:89. doi: 10.1186/s12881-015-0235-5

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© Luzón-Toro 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. 1 — Family trees of patients 2, 3, 5 and 8. All previously identified variants and the new ones found in this study were included. Symbols: V = variant; arrow = patient included in the study; genotypes: − = wildtype allele; + = non-standard allele; * = not available DNA