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Article

In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers.

Pharmacogenetics and genomics - 1 Nov 2009

Yamanashi Yoshihide, Takada Tappei, Suzuki Hiroshi

Abstract excerpt

OBJECTIVES: Niemann-Pick C1-like 1 (NPC1L1) has been shown to be involved in cholesterol transport. Among nonsynonymous variants found from cholesterol low absorbers, six variants were located within only 39 amino acids in the predicted extracellular loop of NPC1L1 protein, suggesting the importance of the region with regard to the function of NPC1L1. In this study, we performed in-vitro analysis to determine the...

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PMID: 19823104
DOI: 10.1097/FPC.0b013e3283327925

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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