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Article

The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels.

Journal of human genetics - 1 Apr 2009

Chen Chun-Wu, Hwang Juey-Jen, Tsai Chia-Ti, Su Yi-Ning, Hsueh Chia-Hsiang, Shen Mark J, Lai Ling-Ping

Abstract excerpt

Niemann-Pick type C1-like 1 (NPC1L1) protein is responsible for intestinal cholesterol absorption. The aim of the study was to identify genetic polymorphisms of the NPC1L1 gene as well as their functional significance. The method involved screening of promoter and coding regions of the NPC1L1 gene for genetic polymorphisms by direct DNA sequencing of genomic DNA from 50 individuals. Functional studies on promoter...

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PMID: 19265861
DOI: 10.1038/jhg.2009.18

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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