Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first...

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Bibliographic Details
Main Authors: L.B. Lopes, C.C. Abreu, C.F. Souza, L.E.R. Guimaraes, A.A. Silva, F. Aguiar-Alves, K.O. Kidd, S. Kmoch, A.J. Bleyer, J.R. Almeida
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2018-03-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Chronic kidney disease
Uromodulin kidney disease
Genetic mutation
Uromodulin
UMOD
Genetic kidney diseases
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300616&lng=en&tlng=en

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