Regulatory mutations in human lipoprotein disorders and atherosclerosis.

Abstract excerpt

Most known mutations underlying human lipoprotein abnormalities affect the protein coding sequence of the gene involved. Mutations in the regulatory regions-promoters, enhancers, binding sites for transcription factors and other elements-may markedly alter the transcription efficiency of lipid-regulatory genes, and may thus cause an inherited defect of lipoprotein metabolism. Reported examples include mutations...

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