Zahedan Journal of Research in Medical Sciences

Published by: Kowsar

A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney

Atousa Hafizi 1 , Saeid Reza Khatami 1 , Hamid Galehdari 1 , Gholam Reza Shariati 2 , * , Ali Hossein Saberi 3 and Mohamad Hamid 4
Authors Information
1 Department of Genetic, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, IR Iran
2 Narges Medical Genetics and PND Laboratory, Ahvaz, IR Iran
3 Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran
4 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, IR Iran
Article information
  • Zahedan Journal of Research in Medical Sciences: May 28, 2015, 17 (5)
  • Published Online: May 31, 2015
  • Article Type: Case Report
  • Received: January 26, 2014
  • Accepted: March 15, 2014
  • DOI: 10.17795/zjrms976

To Cite: Hafizi A, Khatami S R, Galehdari H, Shariati G R, Saberi A H, et al. A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney, Zahedan J Res Med Sci. 2015 ;17(5):-. doi: 10.17795/zjrms976.

Abstract
Copyright © 2015, Zahedan University of Medical Sciences.This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
Acknowledgements
Footnotes
References
  • 1. Qi XP, Du ZF, Ma JM, Chen XL, Zhang Q, Fei J, et al. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. Gene. 2013; 516(1): 93-100[DOI][PubMed]
  • 2. Tan YC, Blumenfeld J, Rennert H. Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs. Biochim Biophys Acta. 2011; 1812(10): 1202-12[DOI][PubMed]
  • 3. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996; 272(5266): 1339-42[PubMed]
  • 4. Goilav B. Apoptosis in polycystic kidney disease. Biochim Biophys Acta. 2011; 1812(10): 1272-80[DOI][PubMed]
  • 5. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007; 369(9569): 1287-301[DOI]
  • 6. Hoefele J, Mayer K, Scholz M, Klein HG. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2011; 26(7): 2181-8[DOI][PubMed]
  • 7. Gallagher AR, Hidaka S, Gretz N, Witzgall R. Molecular basis of autosomal-dominant polycystic kidney disease. Cell Mol Life Sci. 2002; 59(4): 682-93[PubMed]
  • 8. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell. 1995; 81(2): 289-98[PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments