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Article

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

Human mutation - 1 Jan 1997

Gudnason V, Sigurdsson G, Nissen H, Humphries S E

Abstract excerpt

Haplotype analysis in 18 apparently unrelated families with familial hypercholesterolaemia (FH) in Iceland has identified at least five different chromosomes cosegregating with hypercholesterolaemia. The most common haplotype was identified in 11 of the 18 families, indicating a responsible for FH in the Icelandic population. By using single-strand conformation polymorphism (SSCP) and direct sequencing of...

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

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Source

Identifiers

PMID: 9222758
DOI: 10.1002/(SICI)1098-1004(1997)10:1<36::AID-HUMU5>3.0.CO;2-K

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.

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