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Article

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Orphanet journal of rare diseases - 11 Jun 2007

Rosmorduc Olivier, Poupon Raoul

Abstract excerpt

Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. This syndrome is infrequent and corresponds to a peculiar small subgroup of patients with symptomatic...

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Source

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Identifiers

PMID: 17562004
DOI: 10.1186/1750-1172-2-29
PMCID: PMC1910597

Genes

ABCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17562004-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.PMID 17562004Read ↗

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Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients.Semantic proximity Read ↗

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.Semantic proximity Read ↗

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

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.Semantic proximity Read ↗

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

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

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