Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

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Article

Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

American journal of medical genetics - 26 Feb 1998

Pulai J I, Neuman R J, Groenewegen A W, Wu J, Schonfeld G

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B (apoB), and total-, and low-density lipoprotein (LDL) cholesterol. Various truncated forms of apoB have been found to cosegregate with the...

Topics

Apolipoproteins B
DNA
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Genotype
Haplotypes
Humans
Hypobetalipoproteinemias
Lod Score
Male
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
White People

Source

Open in PubMed

Identifiers

PMID: 9508071

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9508071-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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