A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease-Reference-Cited by-同舟云学术

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

Published:2015-03-01 Issue:1 Volume:16 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Ali Hamad,Hussain Naser,Naim Medhat,Zayed Mohamed,Al-Mulla Fahd,Kehinde Elijah O,Seaburg Lauren M,Sundsbak Jamie L,Harris Peter C

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/article/10.1186/s12882-015-0015-7/fulltext.html

Reference28 articles.

1. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287–301.

2. Harris PC, Rossetti S. Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis. 2010;17(2):131–9.

3. Wilson PD. Polycystic kidney disease. N Engl J Med. 2004;350(2):151–64.

4. 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.

5. Audrezet MP, Cornec-Le Gall E, Chen JM, Redon S, Quere I, Creff J, et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012;33(8):1239–50.

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