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Article

Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.

Genes & genomics - 1 Jan 2026

Huang Shuxia, Lu Yulan, Song Yuguo

Abstract excerpt

BACKGROUND: Wilson disease (WD) is a hereditary disorder characterized by abnormal copper metabolism. WD in the liver can result in dyslipidemia, typically manifesting as decreased lipid metabolism. Familial hypercholesterolemia (FH) is an inherited disorder with markedly elevated low-density lipoprotein cholesterol (LDL-C) levels and mainly attributed to disease-causing variants in the low-density lipoprotein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41099993
DOI: 10.1007/s13258-025-01690-3

Genes

LDLR
FH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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