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Article

Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion.

Atherosclerosis - 1 Aug 1990

Top B, Koeleman B P, Gevers Leuven J A, Havekes L M, Frants R R

Abstract excerpt

DNA samples from 53 unrelated Dutch patients with familial hypercholesterolemia (FH) were screened for rearrangements in the gene for the LDL receptor (LDLR) by Southern analysis. Four different mutations have been detected by hybridisation of BglII digested genomic DNA with an exon 10-14 containing cDNA probe. The mutations are defined by a 7 kb insertion near exon 11, a partial gene duplication encompassing...

Topics

Chromosome Deletion
Chromosome Mapping
DNA Mutational Analysis
DNA Probes
Gene Rearrangement
Genetic Carrier Screening
Humans
Hyperlipoproteinemia Type II
Mutation
Netherlands
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Receptors, LDL

Source

Identifiers

PMID: 1978682
DOI: 10.1016/0021-9150(90)90158-f

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1978682-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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