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Article

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.

Scientific reports - 3 Jun 2016

Park Hyo Jin, Kim Tae Hee, Kim So Won, Noh Shin Hye, Cho Kyeong Jee, Choi Choe, Kwon Eun Young, Choi Yang Ji, Gee Heon Yung, Choi Ji Ha

Abstract excerpt

Multidrug resistance 3 (MDR3), encoded by the ATP-binding cassette, subfamily B, member 4 gene (ABCB4), localizes to the canalicular membrane of hepatocytes and translocates phosphatidylcholine from the inner leaflet to the outer leaflet of the canalicular membrane. Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare hepatic disease caused by genetic mutations of ABCB4. In this study, we...

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Identifiers

PMID: 27256251
DOI: 10.1038/srep26872
PMCID: PMC4891722

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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