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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Vydáno v:Braz J Med Biol Res
Hlavní autoři: Lopes, L.B., Abreu, C.C., Souza, C.F., Guimaraes, L.E.R., Silva, A.A., Aguiar-Alves, F., Kidd, K.O., Kmoch, S., Bleyer, A.J., Almeida, J.R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Associação Brasileira de Divulgação Científica 2018
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912098/
https://ncbi.nlm.nih.gov/pubmed/29513881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1414-431X20176560
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