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Article

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

World journal of gastroenterology - 21 May 2014

Jirsa Milan, Bronský Jiří, Dvořáková Lenka, Šperl Jan, Šmajstrla Vít, Horák Jiří, Nevoral Jiří, Hřebíček Martin

Abstract excerpt

AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and...

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Topics

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Share to ATP Binding Cassette Transporter, Subfamily B
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Contraceptives, Oral, Hormonal

Share to DNA Mutational Analysis

Share to Gallstones

Share to Infant

Share to Phospholipids

Source

Open in PubMed Open full text

Identifiers

PMID: 24914347
DOI: 10.3748/wjg.v20.i19.5867
PMCID: PMC4024796

Genes

ABCB4
ABCB11
ABCG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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