No abstract available
Publication types
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Letter
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Research Support, N.I.H., Intramural
MeSH terms
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Carrier Proteins / genetics*
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Cell Line
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Genetic Predisposition to Disease*
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Genetic Variation
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Humans
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Intracellular Signaling Peptides and Proteins
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Membrane Glycoproteins / genetics*
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Mutation
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Niemann-Pick C1 Protein
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Niemann-Pick Disease, Type C / genetics*
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Niemann-Pick Disease, Type C / pathology
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RNA Splicing / genetics
Substances
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Carrier Proteins
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Intracellular Signaling Peptides and Proteins
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Membrane Glycoproteins
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NPC1 protein, human
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Niemann-Pick C1 Protein