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

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 evi...

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Autores principales: Bountouvi, Evangelia, Papadopoulou, Anna, Vanier, Marie T., Nyktari, Georgia, Kanellakis, Spyridon, Michelakakis, Helen, Dinopoulos, Argyrios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415950/
https://www.ncbi.nlm.nih.gov/pubmed/28472934
http://dx.doi.org/10.1186/s12881-017-0409-4

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