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Article

A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.

Journal of lipid research - 1 Apr 1992

Farese R V, Garg A, Pierotti V R, Vega G L, Young S G

Abstract excerpt

Familial hypobetalipoproteinemia, a syndrome associated with low plasma cholesterol levels, can be caused by apoB gene mutations. We identified a healthy 42-year-old man whose total plasma cholesterol level was 80 mg/dl. His plasma very low density lipoprotein (VLDL) contained a unique truncated apoB species, apoB-83, in addition to the normal B apolipoproteins, apoB-100 and apoB-48. Virtually no apoB-83 was...

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PMID: 1527480

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A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.PMID 1527480Read ↗

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Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.Semantic proximity Read ↗

Identification of a Novel apoB Variant in a Family Exhibiting Hypocholesterolemia: Mechanistic InsightsSemantic proximity Read ↗

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