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Article

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.

World journal of gastroenterology - 14 Sept 2009

Treepongkaruna Suporn, Gaensan Amornphun, Pienvichit Paneeya, Luksan Ondrej, Knisely A S, Sornmayura Pattana, Jirsa Milan

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum gamma-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19750581
DOI: 10.3748/wjg.15.4339
PMCID: PMC2744194

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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