טוען...
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...
שמור ב:
| הוצא לאור ב: | Eur J Hum Genet |
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| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2016
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| נושאים: | |
| גישה מקוונת: | 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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