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Article

Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.

Molecular medicine reports - 1 Jun 2018

Wang Fang, Fan Qin, Tao Rong, Gu Gang, Zhang Ruiyan, Xi Rui

Abstract excerpt

Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the...

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

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Source

Identifiers

PMID: 29693183
DOI: 10.3892/mmr.2018.8904

Genes

LDLR

Variants

Provenance

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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