Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

Abstract Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes...

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Bibliographic Details

Published in:	BMC Nephrology
Main Authors:	Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer
Format:	Article
Language:	English
Published:	BMC 2020-10-01
Subjects:	Urine ARPKD Synonymous variant Cilia
Online Access:	http://link.springer.com/article/10.1186/s12882-020-02094-z