Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Abstract Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetically heterogeneous renal disorder leading to progressive loss of renal function. ADTKD-REN is due to rare mutations in renin, all localized in the protein leader peptide and affecting its co-translational insertion in...

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Autores principales: Céline Schaeffer, Claudia Izzi, Andrea Vettori, Elena Pasqualetto, Davide Cittaro, Dejan Lazarevic, Gianluca Caridi, Barbara Gnutti, Cinzia Mazza, Luca Jovine, Francesco Scolari, Luca Rampoldi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/8dc16d1b7739477cbf9a5b1523e9ce60
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