Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy

We identified herein additional patients with rod-cone dystrophy (RCD) displaying mutations in KIZ, encoding the ciliary centrosomal protein kizuna and performed functional characterization of the respective protein in human fibroblasts and of its mouse ortholog PLK1S1 in the retina. Mutation screen...

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Bibliografiske detaljer
Udgivet i:Genes (Basel)
Main Authors: El Shamieh, Said, Méjécase, Cécile, Bertelli, Matteo, Terray, Angélique, Michiels, Christelle, Condroyer, Christel, Fouquet, Stéphane, Sadoun, Maxime, Clérin, Emmanuelle, Liu, Binqian, Léveillard, Thierry, Goureau, Olivier, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664127/
https://ncbi.nlm.nih.gov/pubmed/29057815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8100277
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