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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations by Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos
Published 2017-05-01
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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus by Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano
Published 2019-12-01
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