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[Screening for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia Chinese].

Zhonghua nei ke za zhi - 1 Sept 2004

Pang Qing-Feng, Wang Ying, Xu Ming, Ding Lei, Dong Wei, Mao Pei-Juan

Abstract excerpt

OBJECTIVE: To screen the mutations of low-density lipoprotein receptor (LDLR) gene in Chinese familial hypercholesterolemia (FH) patients. METHODS: 7 patients with clinical phenotype of homozygous FH and their parents were investigated for mutations in all the eighteen exons of LDLR gene. Screening was carried out using PCR-SSCP and direct DNA sequencing and LDLR gene mutation database was searched to identify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15500778

Genes

LDLR

Variants

Provenance

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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