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Article

Heterozygous ABCB4 mutations in children with cholestatic liver disease.

Liver international : official journal of the International Association for the Study of the Liver - 1 Feb 2016

Gordo-Gilart Raquel, Hierro Loreto, Andueza Sara, Muñoz-Bartolo Gema, López Carola, Díaz Carmen, Jara Paloma, Álvarez Luis

Abstract excerpt

BACKGROUND & AIMS: Monoallelic defects in ABCB4, which encodes the canalicular floppase for phosphatidylcholine MDR3, have been encountered in association with a variety of hepatobiliary disorders, particularly in adult subjects. In this study, we examined the presence of heterozygous ABCB4 variants in a cohort of children with chronic cholestasis and assessed the pathogenicity of the missense changes identified....

Read the complete abstract on PubMed

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 Codon, Nonsense

Share to Heterozygote

Share to Infant

Share to Liver Cirrhosis, Biliary

Share to Mutation, Missense

Source

Identifiers

PMID: 26153658
DOI: 10.1111/liv.12910

Genes

ABCB4

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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