Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the...

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Main Author: Kidd, Kendrah (author)
Other Authors: Vylet'al, Petr (author), Schaeffer, Céline (author), Olinger, Eric (author), Živná, Martina (author), Hodaňová, Kateřina (author), Robins, Victoria (author), Johnson, Emily (author), Taylor, Abbigail (author), Martin, Lauren (author), Izzi, Claudia (author), Jorge, Sofia C. (author), Calado, Joaquim (author), Torres, Rosa J. (author), Lhotta, Karl (author), Steubl, Dominik (author), Gale, Daniel P. (author), Gast, Christine (author), Gombos, Eva (author), Ainsworth, Hannah C. (author), Chen, Ying Maggie (author), Almeida, Jorge Reis (author), de Souza, Cintia Fernandes (author), Silveira, Catarina (author), Raposeiro, Rita (author), Weller, Nelson (author), Conlon, Peter J. (author), Murray, Susan L. (author), Benson, Katherine A. (author), Cavalleri, Gianpiero L. (author), Votruba, Miroslav (author), Vrbacká, Alena (author), Amoroso, Antonio (author), Gianchino, Daniela (author), Caridi, Gianluca (author), Ghiggeri, Gian Marco (author), Divers, Jasmin (author), Scolari, Francesco (author), Devuyst, Olivier (author), Rampoldi, Luca (author), Kmoch, Stanislav (author), Bleyer, Anthony J. (author)
Format: article
Language:eng
Published: 2020
Subjects:
autosomal dominant uromodulin kidney disease
genotype
phenotype
rs4293393
uromodulin
Ophthalmology
Nephrology
Online Access:http://hdl.handle.net/10362/104618
Country:Portugal
Oai:oai:run.unl.pt:10362/104618

Internet

http://hdl.handle.net/10362/104618

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