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pro vyhledávání: '"Celine V. Cluzeau"'
Autor:
Wei-Chia Tseng, Hannah E. Loeb, Wuhong Pei, Chon-Hwa Tsai-Morris, Lisha Xu, Celine V. Cluzeau, Christopher A. Wassif, Benjamin Feldman, Shawn M. Burgess, William J. Pavan, Forbes D. Porter
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1. NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysoso
Externí odkaz:
https://doaj.org/article/56fcfa5c85bd4a1eb7330a4d2e257a35