2005•Molecular Genetics and MetabolismRequires access

Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency

Hiroshi Tamura, Takayuki Takahashi, Nobuhiro Ban, Hiroyuki Torisu, Haruaki Ninomiya, Goro Takada, Nobuya Inagaki

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Key concepts: NPC1, Acid sphingomyelinase, Niemann–Pick disease, Niemann–Pick disease, type C, Sphingomyelin, Mutant, Sphingomyelin phosphodiesterase, Transfection