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. 2019 Sep 18;10:862. doi: 10.3389/fgene.2019.00862

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Copyright © 2019 Elli, de Sanctis, Bergallo, Maffini, Pirelli, Galliano, Bordogna, Arosio and Mantovani

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Representative agarose gels of the AS-PCR for the detection of the c.605G > A variant showing both the aspecific primary PCR on top and the allele-specific nested PCR below amplicon bands. In the upper gel, as expected, the G-specific amplicon was appreciable for each sample, whereas in the lower gel, the A-specific amplicon was detectable only in samples bearing the mutant A allele. Samples 1–9 were MAS patients (1–2 = pt46-OC+OT; 3–5 = pt47-BL+OC+OT; 6–7 = pt48-BL+OT; 8–9 = pt49-BL+OT), whereas samples 10 and 11 were WTCs.