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

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

Human genetics - 1 Jun 1995

Leren T P, Sundvold H, Rødningen O K, Tonstad S, Solberg K, Ose L, Berg K

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by defective low density lipoprotein (LDL) receptors and is characterized by hypercholesterolemia and premature coronary heart disease. Two strategies can be used to identify the mutation in the LDL receptor gene underlying FH. One strategy is to searc...

Topics

Base Sequence
Codon, Terminator
Exons
Female
Genetic Testing
Haplotypes
Humans
Hyperlipoproteinemia Type II
Lipids
Male
Molecular Sequence Data
Mutation
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Receptors, LDL

Sequence Analysis, DNA

Source

Identifiers

PMID: 7789953
DOI: 10.1007/BF00209485

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7789953-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.PMID 7789953Read ↗

Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.Semantic proximity Read ↗

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.Semantic proximity Read ↗

A Deep Intronic Variant in LDLR in Familial HypercholesterolemiaSemantic proximity Read ↗

Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.Semantic proximity Read ↗

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

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.Semantic proximity Read ↗

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

Analysis of Low-Density Lipoprotein Receptor Gene Mutations in A Family with Familial HypercholesterolemiaSemantic proximity Read ↗

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.Semantic proximity Read ↗

LDLR c.415G>A causes familial hypercholesterolemia by weakening LDLR binding to LDLSemantic proximity Read ↗

Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.Semantic proximity Read ↗

Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.Semantic proximity Read ↗

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