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Article

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

Journal of pediatric gastroenterology and nutrition - 1 Jan 2011

Colombo Carla, Vajro Pietro, Degiorgio Dario, Coviello Domenico A, Costantino Lucy, Tornillo Luigi, Motta Valentina, Consonni Dario, Maggiore Giuseppe

Abstract excerpt

OBJECTIVES: The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase (γ-GT) activity and to characterize the genotypes with respect to severity of symptoms, response to ursodeoxycholic acid therapy, and outcome. PATIENTS AND METHODS: Molecular analysis of ABCB4 in 133 Italian children was performed, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21119540
DOI: 10.1097/MPG.0b013e3181f50363

Genes

ABCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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