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

Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia.

Clinical biochemistry - 1 Jan 2008

Laios Eleftheria, Glynou Kyriaki

Abstract excerpt

OBJECTIVES: Familial hypercholesterolemia is a monogenic disorder caused by mutations in the LDL receptor (LDLR) gene. We observed allelic drop-out during LDLR genotyping and aimed at redesigning mutation detection. DESIGN AND METHODS: The NanoChip microelectronic array technology and PCR restriction fragment length polymorphism analysis were used. RESULTS: Allele drop-out caused false homozygous diagnoses and...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to False Positive Reactions
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Hyperlipoproteinemia Type II

Share to Linkage Disequilibrium

Share to Receptors, LDL

Share to Research Design

Source

Identifiers

PMID: 17988659
DOI: 10.1016/j.clinbiochem.2007.09.017

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia.PMID 17988659Read ↗

Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia.Semantic proximity Read ↗

Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting.Semantic proximity Read ↗

Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.Semantic proximity Read ↗

Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm.Semantic proximity Read ↗

Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip microelectronic array technology.Semantic proximity Read ↗

Combining multiple PCR primer pairs for each amplicon can improve SNP genotyping accuracy by reducing allelic drop-out.Semantic proximity Read ↗

Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses: a case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia.Semantic proximity Read ↗

Update on low density lipoprotein receptor mutations.Semantic proximity Read ↗

Determination of the factor V Leiden single-nucleotide polymorphism in a commercial clinical laboratory by use of NanoChip microelectronic array technology.Semantic proximity Read ↗

Angiotensin-converting enzyme insertion/deletion polymorphism genotyping error: the cause and a possible solution to the problem.Semantic proximity Read ↗

Multiplex PCR assay for screening deletions in the low density lipoprotein receptor gene.Semantic proximity Read ↗

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.Semantic proximity Read ↗

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