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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書誌詳細
出版年:Genes (Basel)
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2017
主題:
Article
オンライン･アクセス: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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