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Article

Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.

Journal of clinical lipidology - 1 Jan 2000

Ma Yizhe, Gong Yingyun, Garg Abhimanyu, Zhou Hongwen

Abstract excerpt

BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation....

Read the complete abstract on PubMed

Topics

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Share to Anticholesteremic Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29233637
DOI: 10.1016/j.jacl.2017.10.005

Genes

LDLR
ABCG5
ABCG8
ANGPTL3
APOB
APOC3
LDLRAP1
PCSK9

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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