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

Novel human pathological mutations. Gene symbol: LDLR. Disease: hypercholesterolemia.

Human genetics - 1 Aug 2009

Kotzer M S Katrina, Baudhuin Linnea

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Codon
Share to DNA Mutational Analysis
Share to Hypercholesterolemia

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

Share to Molecular Sequence Data

Share to Mutation

Share to Nucleotides

Share to Receptors, LDL

Source

Identifiers

PMID: 19694059

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Novel human pathological mutations. Gene symbol: LDLR. Disease: hypercholesterolemia.PMID 19694059Read ↗

Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia.Semantic proximity Read ↗

The distribution and characteristics of LDL receptor mutations in China: A systematic review.Semantic proximity Read ↗

Familial Hypercholesterolemia: Update and Review.Semantic proximity Read ↗

What is new in familial hypercholesterolemia?Semantic proximity Read ↗

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.Semantic proximity Read ↗

LDL-receptor mutations in Europe.Semantic proximity Read ↗

Update on genetics of familial hypercholesterolemia.Semantic proximity Read ↗

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

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.Semantic proximity Read ↗

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.Semantic proximity Read ↗

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

[Advances in diagnosis and treatment of familial hypercholesterolemia].Semantic proximity Read ↗

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