%0 Generic
%T 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
%A Mütze, Ulrike
%A Bürger, Friederike
%A Hoffmann, Jessica
%A Tegetmeyer, Helmut
%A Heichel, Jens
%A Nickel, Petra
%A Lemke, Johannes R
%A Syrbe, Steffen
%A Beblo, Skadi
%I Elsevier BV
%@ 2214-4269
%K Endocrinology
%K Genetics
%K Molecular Biology
%D 2017
%C Elsevier BV
%U http://slubdd.de/katalog?TN_libero_mab2
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