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Article

[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].

Medicina clinica - 13 Jun 2009

Iglesias Pedro, Díez Juan J, Tarugi Patrizia

Abstract excerpt

BACKGROUND AND OBJECTIVE: Familial hypobetalipoproteinemia (FHB) is usually due to mutations in the APOB gene. Almost 60 different mutations have been reported. We report a Spanish family with FHB phenotype and a new mutation. PATIENT AND METHODS: We performed an analytical, localizing and molecular study of the APOB gene in the proband and in two relatives phenotypically affected. RESULTS: The proband was a...

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Source

Identifiers

PMID: 19442995
DOI: 10.1016/j.medcli.2008.10.063

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.

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