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. 2015 Oct 23;55(1):95–106. doi: 10.1002/gcc.22314

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© 2015 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Sanger sequencing over rs4779584. (a) Family member V:2 (affected), presents with three alleles C,C,T (where C is blue and T is red). The duplication of C on the affected allele is clearly seen compared with the normal control in b. (b) Normal control (alleles C,T). (c) Family member IV:2 (affected) with three C alleles, C,C,C. The duplicated C allele cannot be distinguished from the other normal C allele in this case. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]