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. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63

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Copyright © 2016 KSBMB.

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 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-nc-nd/4.0/

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Results of genetic diagnosis for NPHP-RC. One-third (n=19; 34.5%) of the patients with clinical diagnoses of NPHP-RC obtained a genetic diagnosis by two-step genetic diagnosis using Sanger sequencing (n=12, 21.8%) and targeted exome sequencing (n=7; 12.7%). Four patients with homozygous total deletion of NPHP1, three with IQCB1/NPHP5, one with CEP290/NPHP6, and four with TMEM67/MKS3/NPHP11 were detected using Sanger sequencing. Mutations of other genes were detected using targeted exome sequencing. In addition, heterozygous mutations in NPHP-RC genes were detected in 13 patients (23.6%). NPHP-RC, nephronophthisis-related ciliopathy.