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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Niemann-Pick Type C (NP-C) is a rare disorder of lipid metabolism caused by mutations within the NPC1 and NPC2 genes. NP-C is a neurovisceral disease leading to a heterogeneous, multisystemic spectrum of symptoms in those affected. Until now, there is no investigative tool to demonstrate the signifi...

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Detalles Bibliográficos
Autores principales:	Feng, Xiao, Cozma, Claudia, Pantoom, Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Völkner, Christin, Bauer, Claudia, Vogel, Florian, Bauer, Peter, Weiss, Frank U., Lerch, Markus M., Knospe, Anne-Marie, Hermann, Andreas, Frech, Moritz J., Luo, Jiankai, Rolfs, Arndt, Lukas, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834306/ https://www.ncbi.nlm.nih.gov/pubmed/31635081 http://dx.doi.org/10.3390/ijms20205185

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