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

doi:10.3109/07853899209147838

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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 growi...

Topics

Adolescent
Adult
Child
Finland
Genes
Genetic Markers
Genetic Variation
Genetics, Population
Humans
Hyperlipoproteinemia Type II
Mutation
Phenotype
Receptors, LDL

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