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Article

Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.

Hepatology (Baltimore, Md.) - 1 Jan 2007

Schneider Gudrun, Paus Teresa C, Kullak-Ublick Gerd A, Meier Peter J, Wienker Thomas F, Lang Thomas, van de Vondel Patricia, Sauerbruch Tilman, Reichel Christoph

Abstract excerpt

UNLABELLED: Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy. Splicing mutations have been described in the multidrug resistance p-glycoprotein 3 (MDR3, ABCB4) gene in up to 20% of ICP women. Pedigrees studied were not large enough for linkage analysis. Ninety-seven family members of a woman with proven ICP were asked about pruritus...

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

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Source

Identifiers

PMID: 17187437
DOI: 10.1002/hep.21500

Genes

ABCB4
ABCB11

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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