Browsing Bergen Open Research Archive by Author "Holtan, Josephine Prener"

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    • Dominant ARL3-related retinitis pigmentosa 

      Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild; Bragadottir, Ragnheidur; Houge, Gunnar (Peer reviewed; Journal article, 2019)
      Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). Methods: Clinical examination included optical ...