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

Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.

Human genetics - 1 May 1992

Reshef A, Meiner V, Dann E J, Granat M, Leitersdorf E

Abstract excerpt

Here, we report the prenatal diagnosis of familial hypercholesterolemia in a Christian-Arab family that carries the "Lebanese" mutation, a single base substitution that creates a HinfI restriction site, at the low density lipoprotein (LDL) receptor locus. Polymerase chain reaction amplification and restriction analysis were performed on genomic DNA extracted from a chorionic villus sample. In conjunction with...

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 Deoxyribonucleases, Type II Site-Specific

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

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Oligodeoxyribonucleotides

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1350266
DOI: 10.1007/BF00217130

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

Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.PMID 1350266Read ↗

A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene.Semantic proximity Read ↗

Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.Semantic proximity Read ↗

The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil.Semantic proximity Read ↗

A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.Semantic proximity Read ↗

Molecular genetic diagnosis of a family with hypercholesterolemia by a mismatched PCR-RFLP method for genotyping single base substitution of the LDL receptor gene.Semantic proximity Read ↗

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.Semantic proximity Read ↗

Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.Semantic proximity Read ↗

Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.Semantic proximity Read ↗

Prenatal analysis of the insulin receptor gene in a family with leprechaunism.Semantic proximity Read ↗

Diagnosis of familial hypercholesterolemia using DNA haplotype analysis in three large families with two hyperlipidemic parents.Semantic proximity Read ↗

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

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