Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency
| Autor: | Tamura, Hiroaki, Takahashi, Tsutomu, Ban, Nobuhiro, Torisu, Hiroyuki, Ninomiya, Haruaki, Takada, Goro, Inagaki, Nobuya |
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| Zdroj: | In Molecular Genetics and Metabolism 2006 87(2):113-121 |
| Databáze: | ScienceDirect |
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