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Article

Analysis of gene mutations in children with cholestasis of undefined etiology.

Journal of pediatric gastroenterology and nutrition - 1 Oct 2010

Matte Ursula, Mourya Reena, Miethke Alexander, Liu Cong, Kauffmann Gregory, Moyer Katie, Zhang Kejian, Bezerra Jorge A

Abstract excerpt

BACKGROUND: The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis. PATIENTS AND METHODS: DNA samples were obtained from 51 subjects with cholestasis of...

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Identifiers

PMID: 20683201
DOI: 10.1097/MPG.0b013e3181dffe8f
PMCID: PMC4090691

Genes

ABCB11
ABCB4
JAG1
SERPINA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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