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Article

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

Hepatology (Baltimore, Md.) - 1 Sept 2013

Poupon Raoul, Rosmorduc Olivier, Boëlle Pierre Yves, Chrétien Yves, Corpechot Christophe, Chazouillères Olivier, Housset Chantal, Barbu Véronique

Abstract excerpt

UNLABELLED: The low-phospholipid-associated cholelithiasis syndrome (LPAC; OMIM 171060) is a peculiar form of intrahepatic cholelithiasis occurring in young adults, associated with ABCB4/MDR3 gene sequence variations. Our aim was to determine the genotype-phenotype relationships in 156 consecutive patients with the criteria of LPAC syndrome. A variant was detected in 79 (61 missense and 18 truncating sequence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23533021
DOI: 10.1002/hep.26424

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.

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