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Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.

European journal of medical genetics - 1 Feb 2021

Trabelsi Nawel, Chaouch Leila, Haddad Faten, Jaouani Mouna, Barkaoui Emna, Darragi Imen, Chaouachi Dorra, Boudrigua Imen, Menif Samia, Abbes Salem

Abstract excerpt

INTRODUCTION: Unconjugated hyperbilirubinemia (UCB) is a feature of Gilbert's syndrome (GS) and Crigler-Najjar's syndrome (CNS), which are two hereditary defects in bilirubin metabolism. Both syndromes are linked to mutations in the UGT1A1 gene, which cause either the decrease or the absence of the UGT1A1 enzymatic activity. Here, we investigated the molecular basis of the UGT1A1 gene in Tunisian patients...

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Identifiers

PMID: 33421605
DOI: 10.1016/j.ejmg.2021.104139

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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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