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Article

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

Annals of medicine - 1 Oct 1992

Kontula K, Koivisto U M, Koivisto P, Turtola H

Abstract excerpt

Mutations of the low density lipoprotein (LDL) receptor gene give rise to familial hypercholesterolaemia (FH), one of the most common single-gene diseases in the world. Approximately 150 different LDL receptor gene mutations have been reported until now and the list seems to be continuously growing. Although hampering molecular genetic diagnosis of FH, this wide variability at the DNA level provides a useful tool...

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PMID: 1418919
DOI: 10.3109/07853899209147838

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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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