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...

Descripción completa

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

Internet

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

Ejemplares similares