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

Medientyp: E-Artikel
Titel: Multigene panel next generation sequencing in a patient with cherry red macular spot : identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Beteiligte: Mütze, Ulrike [Verfasser:in]; Bürger, Friederike [Verfasser:in]; Hoffmann, Jessica [Verfasser:in]; Tegetmeyer, Helmut [Verfasser:in]; Heichel, Jens [Verfasser:in]; Nickel, Petra [Verfasser:in]; Lemke, Johannes [Verfasser:in]; Syrbe, Steffen [Verfasser:in]; Beblo, Skadi [Verfasser:in]
Erschienen: Amsterdam: Elsevier, 2016
Erschienen in: Molecular genetics and metabolism reports ; 10(2017), 1-4
Sprache: Englisch
DOI: 10.1016/j.ymgmr.2016.11.004
Identifikator:

Nur in Feld suchen: