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. - Bountouvi, Evangelia; Papadopoulou, Anna; Vanier, Marie T.; Nyktari, Georgia; Kanellakis, Spyridon; Michelakakis, Helen; Dinopoulos, Argyrios (BMC Medical Genetics, 2017)