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Article

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.

Human mutation - 1 Aug 2003

Whitfield A J, Marais A D, Robertson K, Barrett P H R, van Bockxmeer F M, Burnett J R

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein (apo) B. Heterozygotes for FHBL have less-than-half normal LDL-cholesterol and apoB concentrations, whereas homozygotes have extremely low or undetectable LDL-cholesterol and apoB levels. These reductions in LDL-cholesterol and...

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Source

Identifiers

PMID: 12872264
DOI: 10.1002/humu.9163

Genes

APOB

Variants

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.

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