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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Vydáno v:Genes (Basel)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2017
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Article
On-line přístup: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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