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Article

[Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2022

Wang Kexin, Sun Tao, Zhang Xiaoping, Zhang Yahui, Gao Hai, Ren Yanlong, Li Xiaoyan

Abstract excerpt

OBJECTIVE: To explore the correlation between clinical phenotypes and pathogenic variants in two patients with familial hypercholesterolemia. METHODS: Both patients were subjected to whole exome sequencing (WES) with a focus on the analysis of genes associated with dyslipidemia. Candidate variants were verified by Sanger sequencing of the patients and their family members. RESULTS: WES revealed that the proband 1...

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PMID: 36453956
DOI: 10.3760/cma.j.cn511374-20211122-00929

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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