Article
Rare apolipoprotein E variant identified in a patient with type III hyperlipidaemia.
Atherosclerosis - 1 Mar 1993
Wenham P R, McDowell I F, Hodges V M, McEneny J, O'Kane M J, Davies R J, Nicholls D P, Trimble E R, Blundell G
Abstract excerpt
We report a rare apolipoprotein E variant in an Irish female with Type III hyperlipidaemia who has the phenotype E2E1 as determined by isoelectric focusing. Sequence analysis of the apolipoprotein E gene from the proband and from four other family members, using DNA amplified by the polymerase chain reaction, demonstrated the presence of a point mutation in the common epsilon 2 allele with a G-->A transition at...
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