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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Detalhes bibliográficos
Autor principal: Kidd, Kendrah (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
autosomal dominant uromodulin kidney disease
genotype
phenotype
rs4293393
uromodulin
Ophthalmology
Nephrology
Texto completo:http://hdl.handle.net/10362/104618
País:Portugal
Oai:oai:run.unl.pt:10362/104618

Texto Completo

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

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