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

A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

Molecular biology reports - 1 May 2012

Waluś-Miarka Małgorzata, Sanak Marek, Idzior-Waluś Barbara, Miarka Przemysław, Witek Przemysław, Małecki Maciej T, Czarnecka Danuta

Abstract excerpt

The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Segregation
Share to Endocytosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Heterozygote

Share to Poland

Share to Polymorphism, Restriction Fragment Length

Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 22160468
DOI: 10.1007/s11033-011-1314-0
PMCID: PMC3310989

Genes

LDLR

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

A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.PMID 22160468Read ↗

LDL-receptor mutations in Europe.Semantic proximity Read ↗

Functional characterization of splicing and ligand-binding domain variants in the LDL receptorSemantic proximity Read ↗

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.Semantic proximity Read ↗

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.Semantic proximity Read ↗

Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.Semantic proximity Read ↗

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Semantic proximity Read ↗

A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.Semantic proximity Read ↗

[Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].Semantic proximity Read ↗

Analysis of Clinical and Biochemical Characteristics of Patients With Genetically Confirmed Familial Hypercholesterolemia in Russian North Western District Residents.Semantic proximity Read ↗

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

FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.Semantic proximity Read ↗

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.Semantic proximity Read ↗

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