Title : Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Pub. Date : 2019 Sep

PMID : 30820861






2 Functional Relationships(s)
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1 Niemann-Pick type C (NP-C) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome and/or late endosome due to mutations in either NPC1 or NPC2 gene. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
2 Niemann-Pick type C (NP-C) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome and/or late endosome due to mutations in either NPC1 or NPC2 gene. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens