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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Associação Brasileira de Divulgação Científica 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912098/ https://www.ncbi.nlm.nih.gov/pubmed/29513881 http://dx.doi.org/10.1590/1414-431X20176560

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