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...
Main Authors: | Said El Shamieh, Cécile Méjécase, Matteo Bertelli, Angélique Terray, Christelle Michiels, Christel Condroyer, Stéphane Fouquet, Maxime Sadoun, Emmanuelle Clérin, Binqian Liu, Thierry Léveillard, Olivier Goureau, José-Alain Sahel, Isabelle Audo, Christina Zeitz |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2017-10-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/8/10/277 |
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