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  • Title: Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.
    Author: Young SG, Northey ST, McCarthy BJ.
    Journal: Science; 1988 Jul 29; 241(4865):591-3. PubMed ID: 3399894.
    Abstract:
    Familial hypobetalipoproteinemia is a syndrome in which the plasma levels of apolipoprotein B (apo-B) and cholesterol are abnormally low. A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia. DNA sequencing studies on genomic clones and enzymatically amplified genomic DNA samples revealed a four-base pair deletion in the apo-B gene. This short deletion, which results in a frameshift and a premature stop codon, accounts for the truncated apo-B species and explains the low apo-B and low cholesterol levels in this family.
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