Article
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.
BMC medical genetics - 4 May 2017
Bountouvi Evangelia, Papadopoulou Anna, Vanier Marie T, Nyktari Georgia, Kanellakis Spyridon, Michelakakis Helen, Dinopoulos Argyrios
Abstract excerpt
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, published evidence regarding NPC disease in Greece is sparse. METHODS: The study population consisted of two Greek NPC patients...
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