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Article

Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

Human biology - 1 Oct 2005

Meriño-Ibarra Erardo, Castillo Sergio, Mozas Pilar, Cenarro Ana, Martorell Esperanza, Díaz José Luis, Suárez-Tembra Manuel, Alonso Rodrigo, Civeira Fernando, Mata Pedro, Pocoví Miguel

Abstract excerpt

Monogenic hypercholesterolemia is a group of lipid disorders, most of which have autosomal dominant transmission. Familial defective apoB (FDB) resulting from mutations in the APOB gene is a well-recognized cause of autosomal dominant monogenic hypercholesterolemia (ADMH). However, the frequency of FDB among patients with ADMH is not well established. The aim of our research was to screen for mutations...

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Source

Identifiers

PMID: 16596945

Genes

APOB

Provenance

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

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