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Article

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

European journal of clinical investigation - 1 Dec 2007

Mannucci L, Guardamagna O, Bertucci P, Pisciotta L, Liberatoscioli L, Bertolini S, Irace C, Gnasso A, Federici G, Cortese C

Abstract excerpt

BACKGROUND: Sitosterolaemia is a rare autosomal recessive disorder characterised by elevated plasma levels of plant sterols and cholesterol. Sitosterolaemia is caused by gene mutations in either of two ATP-binding cassette (ABC) half transporters, ABCG5 and ABCG8. The plasma sterol profile and genetic analysis of a 10-year-old girl who had tuberous xanthomas is the subject of this report. MATERIALS AND METHODS:...

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Source

Identifiers

PMID: 17976197
DOI: 10.1111/j.1365-2362.2007.01880.x

Genes

ABCG5
ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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