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

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

BMC medical genetics - 27 Dec 2013

Komarova Tatiana Yu, Korneva Victoria A, Kuznetsova Tatiana Yu, Golovina Alexandra S, Vasilyev Vadim B, Mandelshtam Michail Yu

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic tools for the disease. Recent research of FH in St. Petersburg, Moscow and Novosibirsk (major cities in Russia)...

Read the complete abstract on PubMed

Topics

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

Share to Europe
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, LDL

Share to Russia

Source

Open in PubMed Open full text

Identifiers

PMID: 24373485
DOI: 10.1186/1471-2350-14-128
PMCID: PMC3877960

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.PMID 24373485Read ↗

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.Semantic proximity Read ↗

Familial Hypercholesterolemia in Russia: Three Decades of Genetic StudiesSemantic proximity Read ↗

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].Semantic proximity Read ↗

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.Semantic proximity Read ↗

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 ↗

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

Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.Semantic proximity Read ↗

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.Semantic proximity Read ↗

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].Semantic proximity Read ↗

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.Semantic proximity Read ↗

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