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. 2014 Apr 3;8:112. doi: 10.1186/1752-1947-8-112

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Copyright © 2014 Rossing et al.; licensee BioMed Central Ltd.

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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Identification of theDICER1c.3647C>A, p.Ser1216* and the c.3649T>A, p.Tyr1217Asn mutations. Deoxyribonucleic acid was purified from blood samples from a wild-type and the proband. The DICER1 gene was amplified using intronic primer pairs flanking each exon, followed by sequencing. The analysis revealed a DICER1 nucleotide c.3647C>A, p.Ser1216* mutation in exon 21 and a DICER1 nucleotide c.3649T>A, p.Tyr1217Asn mutation also in exon 21 in the proband (panel B) not present in the wild-type (panel A).