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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Detalles Bibliográficos
Autores principales: Ramachandran, Haribaskar, Yakulov, Toma A, Engel, Christina, Müller, Barbara, Walz, Gerd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Short Report
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

Internet

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

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