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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...
Autores principales: | Mabillard, Holly, Sayer, John A, Olinger, Eric |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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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 |
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