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Article

A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption.

Science (New York, N.Y.) - 8 Jun 2018

Zhang Ying-Yu, Fu Zhen-Yan, Wei Jian, Qi Wei, Baituola Gulinaer, Luo Jie, Meng Ya-Jie, Guo Shu-Yuan, Yin Huiyong, Jiang Shi-You, Li Yun-Feng, Miao Hong-Hua, Liu Yong, Wang Yan, Li Bo-Liang, Ma Yi-Tong, Song Bao-Liang

Abstract excerpt

A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced...

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Source

Identifiers

PMID: 29880681
DOI: 10.1126/science.aao6575

Genes

LIMA1

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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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