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

CONCLUSION: Our study provides novel data on UCB among Tunisians. Furthermore, we report four novel mutations associated with both GS and CNS. The identification of these mutations increases the spectrum of the UGT1A1 mutations and contributes to an understanding of the molecular abnormalities associated with unconjugated hyperbilirubinemia. PMID: 33421605 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33421605?dopt=Abstract

Source: European Journal of Medical Genetics - January 6, 2021 Category: Genetics & Stem Cells Authors: Trabelsi N, Chaouch L, Haddad F, Jaouani M, Barkaoui E, Darragi I, Chaouachi D, Boudrigua I, Menif S, Abbes S Tags: Eur J Med Genet Source Type: research