Familial hypercholesterolaemia and LDL receptor mutations.

doi:10.1111/j.1365-2796.1992.tb01252.x

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Article

Familial hypercholesterolaemia and LDL receptor mutations.

Journal of internal medicine - 1 Jun 1992

Soutar A K

Abstract excerpt

Inherited defects in the gene for the low density lipoprotein (LDL)-receptor give rise to familial hypercholesterolaemia (FH), a disorder in which defective catabolism of LDL causes a marked increase in its concentration in plasma. As a result, there is excessive deposition of cholesterol in the...

Topics

Chromosome Deletion
Humans
Hyperlipoproteinemia Type II
Mutation
Phenotype
Receptors, LDL

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