ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.

doi:10.1016/j.dld.2020.12.003

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Article

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Mar 2021

Avena Antonella, Puggelli Sandro, Morris Michael, Cerny Andreas, Andrade Alfredo Repáraz, Pareti Emmanuela, Bihl Florian, Cassatella Daniele, Moix Isabelle, Merlo Elisabetta, Rougemont Anne-Laure, Majno-Hurst Pietro, Vergani Diego, Mieli-Vergani Giorgina, Terziroli Beretta-Piccoli Benedetta

Abstract excerpt

BACKGROUND: Heterozygous ABCB4 variants are not routinely tested in adults with cholestasis because of their supposed rarity and high costs. METHODS: Nineteen adult patients presenting with unexplained cholestasis, and/or recurrent gallstones were included; genotyping was not done in five due to lack of health insurance approval. RESULTS: heterozygous ABCB4 variants were identified in seven patients, followed by...

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PMID: 33390354
DOI: 10.1016/j.dld.2020.12.003

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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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