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

Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland.

Journal of internal medicine - 1 Mar 1992

Aalto-Setälä K, Koivisto U M, Miettinen T A, Gylling H, Kesäniemi Y A, Savolainen M, Pyörälä K, Ebeling T, Mononen I, Turtola H

Abstract excerpt

In order to determine the prevalence of major rearrangements of the low density lipoprotein (LDL) receptor gene in Finland, DNA samples of 199 unrelated Finnish patients with the heterozygous form of familial hypercholesterolaemia (FH) were examined by Southern blot analysis. The FH-Helsinki mutation, characterized by a 9.5-kb deletion in the 3'-end of the LDL receptor gene, was found in 75 (38%) of the patients....

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to DNA

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

Share to Finland

Share to Gene Rearrangement

Share to Mutation

Share to Nucleic Acid Hybridization

Share to Prevalence

Source

Identifiers

PMID: 1372927
DOI: 10.1111/j.1365-2796.1992.tb00528.x

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

Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland.PMID 1372927Read ↗

Molecular genetics of familial hypercholesterolaemia: common and rare mutations of the low density lipoprotein receptor gene.Semantic proximity Read ↗

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Semantic proximity Read ↗

Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.Semantic proximity Read ↗

Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.Semantic proximity Read ↗

Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.Semantic proximity Read ↗

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.Semantic proximity Read ↗

Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.Semantic proximity Read ↗

Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.Semantic proximity Read ↗

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.Semantic proximity Read ↗

Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.Semantic proximity Read ↗

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaSemantic proximity Read ↗

Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population.Semantic proximity Read ↗

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