Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

BACKGROUND: Senior–Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end‐stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPH...

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Detalles Bibliográficos
Autores principales: Ning, Ke, Song, Emilie, Sendayen, Brent E., Prosseda, Philipp P., Chang, Kun‐Che, Ghaffarieh, Alireza, Alvarado, Jorge A., Wang, Biao, Haider, Kathryn M., Berbari, Nicolas F., Hu, Yang, Sun, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963418/
https://www.ncbi.nlm.nih.gov/pubmed/33306870
http://dx.doi.org/10.1002/mgg3.1566

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963418/
https://www.ncbi.nlm.nih.gov/pubmed/33306870
http://dx.doi.org/10.1002/mgg3.1566

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