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

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing

17 Nov 2020

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation screening was performed on the LDLR gene and other FH‑associated genes in patients with definite or possible FH, using next‑generation sequencing. In total, 59 unrelated...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol and Lipid Metabolism
Share to Genetic factors in colorectal cancer
Share to Lipoproteins and Cardiovascular Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33269076
DOI: 10.3892/br.2020.1391

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencingPMID 33269076Read ↗

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.Semantic proximity Read ↗

A Novel LDLR variant in a Ukrainian Patient: A Case Report and Overview of the Disease-Causing LDLR Variants Associated to Familial HypercholesterolemiaSemantic proximity Read ↗

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

A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.Semantic proximity Read ↗

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.Semantic proximity Read ↗

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

New Approaches in Detection and Treatment of Familial Hypercholesterolemia.Semantic proximity Read ↗

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

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.Semantic proximity Read ↗

Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.Semantic proximity Read ↗

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

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