Article
Familial chylomicronemia caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCII gene and the first APOCIV gene mutation: APOCII-CIV(Nijmegen).
Biochemical and biophysical research communications - 14 Jul 2000
de Graaf J, Hoffer M J, Stuyt P M, Frants R R, Stalenhoef A F
Abstract excerpt
Apolipoprotein CII (ApoCII) deficiency is a relatively rare cause of the chylomicronemia syndrome, a disorder characterized by severe fasting hypertriglyceridemia and massive accumulation of chylomicrons in plasma. Here we present a case which is the first example of apoCII deficiency caused by a major rearrangement in the APOCII gene. Southern blot analysis revealed an approximately 7.5-kb deletion disrupting...
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