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. 2014 Dec 10;9:180. doi: 10.1186/s13023-014-0180-y

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© Matos et al.; licensee BioMed Central. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), 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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Analysis of alternative HGSNAT transcripts from the mRNA of five MPS IIIC patients by RT-PCR. RT-PCR amplification of mutations c.234 + 1G > A (A), c.633 + 1G > A (B), c.1542 + 4dupA (C), and c.372-2A > G (D), and of the WT allele, using the primers indicated in the schemes by arrows. The different splicing patterns are depicted in the schemes (right), in which the mutations are indicated by black circles. M: marker, C-: negative control, SFCP, −3, − 6, −13, −7: patients. Boxes in the schemes correspond to exons.