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Article

ABCB4 disease: Many faces of one gene deficiency.

Annals of hepatology - 1 Jan 2020

Sticova Eva, Jirsa Milan

Abstract excerpt

ATP-binding cassette (ABC) subfamily B member 4 (ABCB4), also known as multidrug resistance protein 3 (MDR3), encoded by ABCB4, is involved in biliary phospholipid secretion, protecting hepatobiliary system from deleterious detergent and lithogenic properties of the bile. ABCB4 mutations altering canalicular ABCB4 protein function and expression may have variable clinical presentation and predispose to several...

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Source

Identifiers

PMID: 31759867
DOI: 10.1016/j.aohep.2019.09.010

Genes

ABCB4

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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ABCB4 disease: Many faces of one gene deficiency.PMID 31759867Read ↗

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

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

The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.Semantic proximity Read ↗

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

[Clinical characteristics of ABCB4 gene variant-associated cholestatic liver disease in adults].Semantic proximity Read ↗

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.Semantic proximity Read ↗

ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.Semantic proximity Read ↗

Liver diseases related to MDR3 (ABCB4) gene deficiency.Semantic proximity Read ↗

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.Semantic proximity Read ↗

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