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Article

The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Feb 2022

Falcão Daniela, Pedroto Isabel, Moreira Teresa

Abstract excerpt

BACKGROUND: ABCB4-gene mutations are responsible for several cholestatic diseases with a heterogeneous clinical spectrum. AIMS: To analyse phenotype/genotype relationships in ABCB4-mutations. METHODS: Retrospective characterization of adult patients with ABCB4-variations diagnosed between 2015 and 2020. Genotype-phenotype correlations were analysed and compared with previously reported data. RESULTS: Twenty...

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Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34376370
DOI: 10.1016/j.dld.2021.07.003

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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