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Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a ciliary domain near its base that controls the protein composition of its membrane. We defined the three-dimensional arrangeme...

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Bibliografiske detaljer
Udgivet i:Nat Cell Biol
Main Authors: Shi, Xiaoyu, Garcia, Galo, Van De Weghe, Julie C., McGorty, Ryan, Pazour, Gregory J., Doherty, Dan, Huang, Bo, Reiter, Jeremy F.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5695680/
https://ncbi.nlm.nih.gov/pubmed/28846093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncb3599
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