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Urinary proteome signature of Renal Cysts and Diabetes syndrome in children
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (ren...
Autores principales: | Ricci, Pierbruno, Magalhães, Pedro, Krochmal, Magdalena, Pejchinovski, Martin, Daina, Erica, Caruso, Maria Rosa, Goea, Laura, Belczacka, Iwona, Remuzzi, Giuseppe, Umbhauer, Muriel, Drube, Jens, Pape, Lars, Mischak, Harald, Decramer, Stéphane, Schaefer, Franz, Schanstra, Joost P., Cereghini, Silvia, Zürbig, Petra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379363/ https://www.ncbi.nlm.nih.gov/pubmed/30778115 http://dx.doi.org/10.1038/s41598-019-38713-5 |
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