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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Zampieri, Stefania, Bianchi, Ezio, Cantile, Carlo, Saleri, Roberta, Bembi, Bruno, Dardis, Andrea
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4232374/
https://ncbi.nlm.nih.gov/pubmed/25396745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0112503
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