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Transcript, Protein, Metabolite and Cellular Studies in Skin Fibroblasts Demonstrate Variable Pathogenic Impacts of NPC1 Mutations

Dita Musalkova,Filip Majer,Ladislav Kuchar,Ondrej Luksan,Befekadu Asfaw,Hana Vlaskova,Gabriela Storkanova,Martin Reboun,Helena Poupetova,Helena Jahnova,Helena Hulkova,Jana Ledvinova,Lenka Dvorakova,Jakub Sikora,Milan Jirsa,Marie T. Vanier,Martin Hrebicek

Orphanet Journal of Rare Diseases（2020）

Cited 6|Views7
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Key words
Niemann-pick type C,Lysosomal storage disease,Proteostasis,Mutant protein,Cholesterol transport
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