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

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

Journal of lipid research - 1 Feb 2005

Wang Jian, Ban Matthew R, Hegele Robert A

Abstract excerpt

Autosomal dominant (AD) familial hypercholesterolemia [FH; Mendelian Inheritance in Man (MIM) 143890] typically results from mutations in the LDL receptor gene (LDLR), which are now commonly diagnosed using exon-by-exon screening methods, such as exon-by-exon sequence analysis (EBESA) of genomic DNA (gDNA). However, many patients with FH have no LDLR mutation identified by this method. Part of the diagnostic gap...

Read the complete abstract on PubMed

Topics

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

Share to Area Under Curve
Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Techniques

Share to Hyperlipoproteinemia Type II

Share to Receptors, LDL

Source

Identifiers

PMID: 15576851
DOI: 10.1194/jlr.D400030-JLR200

Genes

LDLR
APOB

Variants

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

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.PMID 15576851Read ↗

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemiaSemantic proximity Read ↗

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

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.Semantic proximity Read ↗

Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia.Semantic proximity Read ↗

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

Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.Semantic proximity Read ↗

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaSemantic proximity Read ↗

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.Semantic proximity Read ↗

Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.Semantic proximity Read ↗

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.Semantic proximity Read ↗

Oligonucleotide ligation assay for detection of apolipoprotein E polymorphisms.Semantic proximity Read ↗

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