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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease. Mutations in UMOD and MUC1 are the most common causes of ADTKD but other rarer (REN, SEC61A1), atypical (DNAJB11) o...

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Detalles Bibliográficos
Autores principales: Mabillard, Holly, Sayer, John A, Olinger, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923703/
https://www.ncbi.nlm.nih.gov/pubmed/34519781
http://dx.doi.org/10.1093/ndt/gfab268