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

Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

Gene - 25 Apr 2012

Chiou Kuan-Rau, Charng Min-Ji

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. This study investigated FH patients carrying common mutations in Taiwan and compared them to FH southeastern Asians. Causal FH mutations were identified by exon-by-exon sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoproteins B
Share to China
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Emigration and Immigration

Share to Haplotypes

Share to Hyperlipoproteinemia Type II

Share to Receptors, LDL

Share to Taiwan

Source

Identifiers

PMID: 22353362
DOI: 10.1016/j.gene.2012.01.092

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.PMID 22353362Read ↗

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Semantic proximity Read ↗

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.Semantic proximity Read ↗

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

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.Semantic proximity Read ↗

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.Semantic proximity Read ↗

The genetic spectrum of familial hypercholesterolemia in the central south region of China.Semantic proximity Read ↗

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

Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.Semantic proximity Read ↗

A systematic review of LDLR, PCSK9, and APOB variants in Asia.Semantic proximity Read ↗

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial HypercholesterolemiaSemantic proximity Read ↗

Analysis of Gene mutation types and clinical characteristics of patients with familial hypercholesterolemia in ShijiazhuangSemantic proximity Read ↗

A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.Semantic proximity Read ↗

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