Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Abstract 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) g...

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Bibliographic Details
Main Authors: Ke Ning, Emilie Song, Brent E. Sendayen, Philipp P. Prosseda, Kun‐Che Chang, Alireza Ghaffarieh, Jorge A. Alvarado, Biao Wang, Kathryn M. Haider, Nicolas F. Berbari, Yang Hu, Yang Sun
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
INPP5E
NPHP1
primary cilia
Senior–Loken syndrome
transition zone
Online Access:https://doi.org/10.1002/mgg3.1566

Internet

https://doi.org/10.1002/mgg3.1566

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