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. 2014 Apr 17;2(4):341–351. doi: 10.1002/mgg3.75

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© 2014 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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PCR amplification across deletion breakpoint junction. Lane 1: DNA size marker ladder is shown with their sizes (bp). Lane 2: A 1.3-kb PCR product indicated by an arrow is generated using primers 5p1-F and 3p3-R (Table 2) with DNA isolated from the subject. Lane 3: No amplification was seen using primers 5p1-F and 3p1-R with the subject DNA indicating that primer 3p1-R is located within the deleted region. Lane 4: No PCR product was generated using the same primer set as in Lane 2 (5p1-F and 3p3-R) but, with control DNA which has no deletion.