Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathoge...

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Main Authors: Amali C. Mallawaarachchi, Yvonne Hort, Laura Wedd, Kitty Lo, Sarah Senum, Mojgan Toumari, Wenhan Chen, Mike Utsiwegota, Jane Mawson, Scott Leslie, Jerome Laurence, Lyndal Anderson, Paul Snelling, Robert Salomon, Gopala K. Rangan, Timothy Furlong, John Shine, Mark J. Cowley
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00452-6
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https://doi.org/10.1038/s41525-024-00452-6

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