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. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3

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© Chafai-Elalaoui 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 — Sequence analysis. The three patients carry a homozygous mutation (p.Thr304AsnfsX6) causing frameshift and predicting a premature protein truncation (a : affected daughter or patient 2, b : affected son or patient 1). Parents are heterozygous for the mutation (c, d)