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Article

New mutations in APOB100 involved in familial hypobetalipoproteinemia.

Journal of clinical lipidology - 1 Jan 2000

Brusgaard Klaus, Kjaersgaard Lars, Hansen Anne-Birthe Bo, Husby Steffen

Abstract excerpt

Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins. Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel...

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Source

Identifiers

PMID: 21122650
DOI: 10.1016/j.jacl.2010.02.009

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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New mutations in APOB100 involved in familial hypobetalipoproteinemia.PMID 21122650Read ↗

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Familial defective apolipoprotein B-100: A review.Semantic proximity Read ↗

Missense Mutations in APOB within the βα1 Domain of Human APOB-100 Result in Impaired Secretion of ApoB and ApoB-containing Lipoproteins in Familial HypobetalipoproteinemiaSemantic proximity Read ↗

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