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

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PloS one - 1 Jan 2015

Han Soo Min, Hwang Byungjin, Park Tae-gun, Kim Do-Il, Rhee Moo-Yong, Lee Byoung-Kwon, Ahn Young Keun, Cho Byung Ryul, Woo Jeongtaek, Hur Seung-Ho, Jeong Jin-Ok, Park Sungha, Jang Yangsoo, Lee Min Goo, Bang Duhee, Lee Ji Hyun, Lee Sang-Hak

Abstract excerpt

Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH,...

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 Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Hypercholesterolemia

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

Share to Serine Endopeptidases

Source

Open in PubMed Open full text

Identifiers

PMID: 25962062
DOI: 10.1371/journal.pone.0126706
PMCID: PMC4427254

Genes

LDLR
PCSK9
APOB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.PMID 25962062Read ↗

Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare SystemSemantic proximity Read ↗

Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.Semantic proximity Read ↗

Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.Semantic proximity Read ↗

Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.Semantic proximity Read ↗

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Semantic proximity Read ↗

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.Semantic proximity Read ↗

Array-based resequencing for mutations causing familial hypercholesterolemia.Semantic proximity Read ↗

Molecular Screening of Familial Hypercholesterolemia in the Icelandic PopulationSemantic proximity Read ↗

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.Semantic proximity Read ↗

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

Genetic Spectrum and Lipid Profiles of 46 Chinese Children With Dyslipidemia Analyzed by Whole-Exome Sequencing: A 10-Year Single-Center Retrospective StudySemantic proximity Read ↗

Molecular screening of familial hypercholesterolemia in Icelanders.Semantic proximity Read ↗

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