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Article

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.

Annals of hepatology - 1 Jan 2000

Vitale Giovanni, Pirillo Martina, Mantovani Vilma, Marasco Elena, Aquilano Adelia, Gamal Nesrine, Francalanci Paola, Conti Fabio, Andreone Pietro

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the same genes and...

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Identifiers

PMID: 27493120
DOI: 10.5604/16652681.1212618

Genes

ABCB11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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