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Article

Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

Hepatology (Baltimore, Md.) - 1 Apr 2005

Hayashi Hisamitsu, Takada Tappei, Suzuki Hiroshi, Akita Hidetaka, Sugiyama Yuichi

Abstract excerpt

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a mutation in the bile salt export pump (BSEP/ABCB11) gene. However, the mechanisms for the deficiency in the function of two mutations (E297G and D482G), which are frequently found in European patients, have not yet been identified. In the present study, we examined the transport activity and cellular localization of these two mutants in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15791618
DOI: 10.1002/hep.20627

Genes

ABCB11

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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