PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease-Reference-Cited by-同舟云学术

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Published:2019-03-11 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Ali Hamad,Al-Mulla Fahd,Hussain Naser,Naim Medhat,Asbeutah Akram M.^ORCID,AlSahow Ali,Abu-Farha Mohamed^ORCID,Abubaker Jehad,Al Madhoun Ashraf,Ahmad Sajjad,Harris Peter C.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-40761-w.pdf

Reference58 articles.

1. Ong, A. C. & Harris, P. C. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney international 67, 1234–1247, https://doi.org/10.1111/j.1523-1755.2005.00201.x (2005).

2. Gabow, P. A. Autosomal dominant polycystic kidney disease. The New England journal of medicine 329, 332–342, https://doi.org/10.1056/NEJM199307293290508 (1993).

3. Harris, P. C. & Rossetti, S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nature reviews. Nephrology 6, 197–206, https://doi.org/10.1038/nrneph.2010.18 (2010).

4. Harris, P. C. & Torres, V. E. Polycystic kidney disease. Annu Rev Med 60, 321–337, https://doi.org/10.1146/annurev.med.60.101707.125712 (2009).

5. Harris, P. C. & Rossetti, S. Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis 17, 131–139, https://doi.org/10.1053/j.ackd.2009.12.004 (2010).

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