Nephro-Urology Monthly

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A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

Sidy Mohamed Seck 1 , * , Serigne Guèye 2 and Boucar Diouf 2
Authors Information
1 Internal Medicine and Nephrology Department, Faculty of Health Sciences, University Gaston Berger, Saint-Louis, Senegal
2 Nephrology Department, University Hospital Aristide Le Dantec, Dakar, Senegal
Article information
  • Nephro-Urology Monthly: March 01, 2013, 5 (2); 769-72
  • Published Online: March 30, 2013
  • Article Type: Case Report
  • Received: June 6, 2012
  • Accepted: June 23, 2012
  • DOI: 10.5812/numonthly.6651

To Cite: Seck S M, Guèye S, Diouf B. A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease, Nephro-Urol Mon. 2013 ; 5(2):769-72. doi: 10.5812/numonthly.6651.

Copyright © 2013, Nephrology and Urology Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case History
3. Discussion
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  • 2. 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]
  • 3. Autosomal Dominant Polycystic Kidney Disease: Mutation Database.
  • 4. Fary Ka E, Seck SM, Niang A, Cisse MM, Diouf B. Patterns of autosomal dominant polycystic kidney diseases in black Africans. Saudi J Kidney Dis Transpl. 2010; 21(1): 81-6[PubMed]
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  • 8. Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007; 18(7): 2143-60[DOI][PubMed]
  • 9. Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008; 74(11): 1468-79[DOI][PubMed]
  • 10. Kumar BS, Sharma P, Reddy LK, Bhattaram MP, Mohan A, Kumar VS. Mutation analysis of PKD1 gene in Indian population. Saudi J Kidney Dis Transpl. 2012; 23(1): 143-7[PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

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