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The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product
Nephronophthisis (NPH) is a rare autosomal ciliopathy, but the leading cause for hereditary end-stage renal disease in children. Most NPH family members form large protein networks, which appear to participate in structural elements of the cilium and/or function to restrict access of molecules to th...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930099/ https://www.ncbi.nlm.nih.gov/pubmed/26374130 http://dx.doi.org/10.1038/ejhg.2015.199 |