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Article

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.

Human mutation - 1 Aug 2002

Heimerl Susanne, Langmann Thomas, Moehle Christoph, Mauerer Richard, Dean Michael, Beil Frank-Ulrich, von Bergmann Klaus, Schmitz Gerd

Abstract excerpt

Phytosterolemia or Sitosterolemia is a rare autosomal recessive disorder characterized by highly elevated plasma levels of plant sterols and cholesterol as a consequence of hyperabsorption and impaired biliary secretion of sterols. The disease is caused by mutations in two half size ATP-binding cassette transporters, ABCG5 and ABCG8. We have analyzed the genomic sequence of ABCG5 and ABCG8 in five...

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Source

Identifiers

PMID: 12124998
DOI: 10.1002/humu.9047

Genes

ABCG5
ABCG8

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.

Related research

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Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.PMID 12124998Read ↗

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Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.Semantic proximity Read ↗

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