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Article

Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2018

Khabou Boudour, Mahjoub Bahri, Barbu Véronique, Balhoudi Nassima, Wardani Amina, Sfar Mohamed Taher, Fakhfakh Faiza

Abstract excerpt

INTRODUCTION: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a chronic autosomal recessive disorder characterized by a wide spectrum of clinical severity generally related to the degree of pathogenicity of the causal sequence variation in ABCB4 gene. PATIENTS AND METHODS: The present study reports the molecular investigation by Next Generation Sequencing (NGS) of five related patients with PFIC3...

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Topics

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Share to ATP Binding Cassette Transporter, Subfamily B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

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Source

Identifiers

PMID: 30036524
DOI: 10.1016/j.cca.2018.07.035

Genes

ABCB4
ABCB11
ABCG8

Variants

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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