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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...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4930099/ https://ncbi.nlm.nih.gov/pubmed/26374130 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.199 |
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