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. 2016 Jan 20;6:19432. doi: 10.1038/srep19432

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Copyright © 2016, Macmillan Publishers Limited

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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A shows the segregation of compound heterozygous changes c.8422G>A (MU1) and c.7868G>A (MU2). Genotypes are presented as follows: MU1/MU2 represents individuals with both mutations as compound heterozygous; MU1/+ and +/MU2 indicate heterozygous carriers; +/+ indicates individuals carrying two wild-type alleles. NA denotes DNA samples that were unavailable.