Title : Niemann-Pick disease type C: two cases and an update.

Pub. Date : 2000 Nov

PMID : 11104205






1 Functional Relationships(s)
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Protein Name
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1 The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens