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Article

MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.

Seminars in liver disease - 1 Feb 2007

Trauner Michael, Fickert Peter, Wagner Martin

Abstract excerpt

Because ATP-binding cassette (ABC) transporters are important for normal bile secretion, hereditary and acquired ABC transporter defects play a central role in the pathogenesis of cholestasis. Defects of the phospholipid export pump MDR3 ( ABCC4) result in impaired biliary excretion of phosphatidylcholine and a variety of cholestatic syndromes ranging from progressive familial intrahepatic cholestasis in neonates...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17295178
DOI: 10.1055/s-2006-960172

Genes

ABCB4
ABCC4

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.PMID 17295178Read ↗

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Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.Semantic proximity Read ↗

ABCB4: Insights from pathobiology into therapy.Semantic proximity Read ↗

Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.Semantic proximity Read ↗

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.Semantic proximity Read ↗

Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.Semantic proximity Read ↗

A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.Semantic proximity Read ↗

ABCB4 disease: Many faces of one gene deficiency.Semantic proximity Read ↗

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving SpectrumSemantic proximity Read ↗

Identification of a new, likely pathogenic, heterozygous ABCB4 variant causing low phospholipid-associated cholelithiasis.Semantic proximity Read ↗

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