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Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Niemann-Pick C disease (NPC) is an autosomal recessive lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids within the lysosomes due to mutation in NPC1 or NPC2 genes. A feline model of NPC carrying a mutation in NPC1 gene has been previously describe...

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Detalles Bibliográficos
Autores principales:	Zampieri, Stefania, Bianchi, Ezio, Cantile, Carlo, Saleri, Roberta, Bembi, Bruno, Dardis, Andrea
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232374/ https://www.ncbi.nlm.nih.gov/pubmed/25396745 http://dx.doi.org/10.1371/journal.pone.0112503

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