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Article

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.

Human mutation - 1 Aug 2002

Yue Pin, Yuan Bo, Gerhard Daniela S, Neuman Rosalind J, Isley William L, Harris William S, Schonfeld Gustav

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. Truncation-producing mutations of apoB (chromosome 2) are among several potential causes of FHBL in patients. Ten new families with FHBL linked to chromosome 2 were identified. In Family 8, a 4432delT in exon 26 produces a frame-shift and a premature stop codon predicted to produce a...

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Source

Identifiers

PMID: 12124991
DOI: 10.1002/humu.10101

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

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Research trail→

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Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.PMID 12124991Read ↗

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Apolipoprotein B-38.9 does not associate with apo[a] and forms two distinct HDL density particle populations that are larger than HDL.Semantic proximity Read ↗

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 ↗

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