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. 2014 Jan 20;10:135–140. doi: 10.2147/NDT.S49784

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© 2014 Conforti et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License

The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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Bar graph showing the result of multiplex ligation-dependent probe amplification (MLPA) analysis using the SALSA MLPA P081 and P082 NF1 kits (MRC-Holland, Amsterdam, the Netherlands). Relative amounts of probe-amplified products were compared with reference samples and data analysis was performed using the Coffalyser 9.4 package (MRC-Holland). Values under a threshold of 0.7 and over a threshold of 1.3 for multiple adjacent probes indicate the presence of a deletion or duplication, respectively. The arrows highlight the exons 12 (10a) and 13 (10b) deleted in this patient.