Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Jul 2009

Wang L, Lin J, Liu S, Cao S, Liu J, Yong Q, Yang Y, Wu B, Pan X, Du L, Wu C, Qin Y, Chen B

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused by mutations in the low-density lipoprotein receptor (LDL-R) gene, leading to elevated levels of cholesterol and an increased risk of coronary heart disease. In this article,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aortic Valve
Share to Carotid Arteries
Share to Coronary Circulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Echocardiography, Doppler

Share to Hyperlipoproteinemia Type II

Share to Mitral Valve

Share to Tunica Intima

Share to Tunica Media

Source

Identifiers

PMID: 19073363
DOI: 10.1016/j.numecd.2008.07.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19073363-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.PMID 19073363Read ↗

The distribution and characteristics of LDL receptor mutations in China: A systematic review.Semantic proximity Read ↗

Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia.Semantic proximity Read ↗

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.Semantic proximity Read ↗

Analysis of Low-Density Lipoprotein Receptor Gene Mutations in A Family with Familial HypercholesterolemiaSemantic proximity Read ↗

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.Semantic proximity Read ↗

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.Semantic proximity Read ↗

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.Semantic proximity Read ↗

Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.Semantic proximity Read ↗

Genetic diagnosis of familial hypercholesterolemia in Han Chinese.Semantic proximity Read ↗

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.Semantic proximity Read ↗

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

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.