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    Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

    Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with m... by Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Johannes R Lemke, Steffen Syrbe, Skadi Beblo

    Published 2017-03-01
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