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Article

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PloS one - 1 Jan 2015

Giovannoni Isabella, Callea Francesco, Bellacchio Emanuele, Torre Giuliano, De Ville De Goyet Jean, Francalanci Paola

Abstract excerpt

Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three distinct forms are described: FIC1 and FIC2, associated with low/normal GGT level in serum, which are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and defects in ABCB11...

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Source

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Identifiers

PMID: 26678486
DOI: 10.1371/journal.pone.0145021
PMCID: PMC4683058

Genes

ABCB11
ABCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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