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. 1981 May;67(5):1441–1450. doi: 10.1172/JCI110173

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

M J Malloy, J P Kane, D A Hardman, R L Hamilton, K B Dalal
PMCID: PMC370711  PMID: 7229035

Abstract

In the two genetic forms of abetalipoproteinemia described previously, recessive abetalipoproteinemia and homozygous hypobetalipoproteinemia, all lipoproteins that normally contain apolipoprotein B are absent from plasma. We describe here a new disorder in which normal low density and very low density lipoproteins are absent, but in which triglycerides are absorbed from the intestine and chylomicrons are present in plasma. The underlying molecular defect appears to be selective deletion of the hepatogenous B-100 apolipoprotein. The B-48 apolipoprotein found in chylomicrons is spared. These findings suggest that the two species of apolipoprotein B are under separate genetic control and that low density lipoproteins are not normally derived from chylomicrons.

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Selected References

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