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

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference43 articles.

1. Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases;Aloulou;La Tunisie medicale,2010

2. 3′-UTR variations and G6PD deficiency;Amini;J. Hum. Genet.,2013

3. Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II;Aono;Biochem. Biophys. Res. Commun.,1993

4. International Committee for Standardization in Haematology: recommended methods for red‐cell enzyme analysis;Beutler;Br. J. Haematol.,1977

5. Mechanisms of alternative pre-messenger RNA splicing;Black;Annu. Rev. Biochem.,2003

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