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. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z

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© De Filippi et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. 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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Left: structural model of GAA. Right: magnification of the catalytic site. Grey sticks: catalytic residues. Grey spheres: G643R mutation (c.1927G > A).