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Article

Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia.

Chinese medical journal - 1 Oct 2003

Cao Shouchun, Wang Lüya, Qin Yanwen, Lin Jie, Wu Bangjun, Liu Shu, Pan Xiaodong, Du Lanping, Chen Baosheng

Abstract excerpt

OBJECTIVE: To screen the point mutation of the low-density lipoprotein receptor (LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, characterize the relationship between the genotype and the phenotype and discuss the molecular pathological mechanism of FH. METHODS: A patient with...

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PMID: 14570618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14570618-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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