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

• Autores principales: Evangelia Bountouvi (Autor), Anna Papadopoulou (Autor), Marie T. Vanier (Autor), Georgia Nyktari (Autor), Spyridon Kanellakis (Autor), Helen Michelakakis (Autor), Argyrios Dinopoulos (Autor)
• Formato: Libro
• Publicado: BMC, 2017-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, publi...