Browsing School of Biological and Chemical Sciences by Subject "Jeuene syndrome"

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    • Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. 

      Joseph, N; Al-Jassar, C; Johnson, CM; Andreeva, A; Barnabas, DD; Freund, SMV; Gergely, F; van Breugel, M (2018-05-29)
      Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality ...