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Polycystic kidney disease - where gene dosage counts
Journal article   Open access   Peer reviewed

Polycystic kidney disease - where gene dosage counts

Michael R Eccles and Cherie A Stayner
F1000 prime reports, Vol.6, pp.24-24
01/04/2014
Handle:
https://hdl.handle.net/10523/29826

Abstract

Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may potentially make intertwined contributions to PKD.
url
https://doi.org/10.12703/P6-24View
Published (Version of record) Open

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