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. 2013 May 21;2:10. doi: 10.1186/2047-9158-2-10

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Copyright © 2013 Pretto 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 cited.

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Southern blot analysis of genomic DNA isolate from two controls: C1 (negative control, normal female with two normal alleles and the corresponding 5.2 Kb and 2.8 Kb bands (methylated and unmethylated alleles respectively) and C2 (positive control, full mutation male with a methylated band of ~ 800 CGG repeats). Both a premutation allele and a full mutation alleles are present in blood (lane 1), cerebellum (lane 2), and frontal cortex (lane 3) of the proband. DNA marker (M) 1 kb ladder is shown in Lane 1.