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Article

[Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2020

Wang D Y, Zhang Y M, Che F Y, Chu J P, Zhang L Y, Li H, Liu B L, Yao Z Y, Zhao Y W

Abstract excerpt

Objective: To analyze the genetic characteristics of a five generations pedigree with homozygous familial hypercholesterolemia (HoFH). Methods: Prospective study. Twenty family members included a proband diagnosed as familial hyperlipidemia at the cardiology Department of Xi'an Children's Hospital in October 2018 were research object. Clinical data were collected. Genome DNAs were extracted. Whole exons...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Hyperlipoproteinemia Type I

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Source

Identifiers

PMID: 32102145
DOI: 10.3760/cma.j.issn.0578-1310.2020.02.007

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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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