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 stop mutation causing familial hypercholesterolemia in a Costa Rican family.

Molecular and cellular probes - 1 Dec 1997

Thiart R, Loubser O, de Villiers J N, Santos M, Kotze M J

Abstract excerpt

Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor...

Read the complete abstract on PubMed

Topics

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

Share to Costa Rica
Share to EGF gene
Share to LDLR gene

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

Share to Hypercholesterolemia

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, LDL

Source

Identifiers

PMID: 9500809
DOI: 10.1006/mcpr.1997.0134

Genes

LDLR
EGF

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

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.PMID 9500809Read ↗

Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.Semantic proximity Read ↗

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.Semantic proximity Read ↗

FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.Semantic proximity Read ↗

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.Semantic proximity Read ↗

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.Semantic proximity Read ↗

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.Semantic proximity Read ↗

A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.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 ↗

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.Semantic proximity Read ↗

Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP.Semantic proximity Read ↗

Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency.Semantic proximity Read ↗

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