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

Simplified detection of a mutation causing familial hypercholesterolaemia throughout Britain: evidence for an origin in a common distant ancestor.

Annals of clinical biochemistry - 1 Mar 1998

Wenham P R, Haddad L, Panarelli M, Ashby J P, Day I N, Giles P D, Humphries S E, Penney M D, Rae P W, Walker S W

Abstract excerpt

Familial hypercholesterolaemia (FH) is an inherited autosomal codominant disorder caused by many different mutations in the low-density lipoprotein receptor (LDLR) gene. The one described most frequently in patients with FH from England, arises from a G-->A transition at the first nucleotide of codon 80, resulting in the substitution of lysine for glutamic acid at residue 80 of the mature protein, FH E80K. We...

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 Haplotypes

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

Share to Heterozygote

Share to Microsatellite Repeats

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9547893
DOI: 10.1177/000456329803500205

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

Simplified detection of a mutation causing familial hypercholesterolaemia throughout Britain: evidence for an origin in a common distant ancestor.PMID 9547893Read ↗

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.Semantic proximity Read ↗

Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.Semantic proximity Read ↗

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.Semantic proximity Read ↗

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.Semantic proximity Read ↗

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.Semantic proximity Read ↗

New contributions to the study of common double mutants in the human LDL receptor gene.Semantic proximity Read ↗

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.Semantic proximity Read ↗

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.Semantic proximity Read ↗

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.Semantic proximity Read ↗

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners.Semantic proximity Read ↗

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.Semantic proximity Read ↗

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