Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage disease characterized by a defect in the trafficking of endocytosed cholesterol. In 95% of patients the gene encoding NPC1 is affected. The correlation of the genetic background in NP-C with the clinical phenotype such as, se...
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| Format: | article |
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2019
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| Online Access: | http://hdl.handle.net/10725/11322 https://doi.org/10.1038/s41598-019-41707-y http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://www.nature.com/articles/s41598-019-41707-y |
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