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Article

A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.

Hepatology (Baltimore, Md.) - 1 May 2016

Delaunay Jean-Louis, Durand-Schneider Anne-Marie, Dossier Claire, Falguières Thomas, Gautherot Julien, Davit-Spraul Anne, Aït-Slimane Tounsia, Housset Chantal, Jacquemin Emmanuel, Maurice Michèle

Abstract excerpt

UNLABELLED: Progressive familial intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (≥70%) missense. In this study, we examined the effects of 12 missense variations identified in progressive familial intrahepatic cholestasis type 3 patients. We classified these variations on the basis of the defects thus identified and explored potential rescue of trafficking-defective mutants...

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Share to ATP Binding Cassette Transporter, Subfamily B
Share to Cholestasis, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to ABCB4 gene

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Source

Identifiers

PMID: 26474921
DOI: 10.1002/hep.28300

Genes

ABCB4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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