Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1-Reference-Cited by-同舟云学术

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1

Published:2021-09-21 Issue:11 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ghorbani Mohammad Javad¹^ORCID,Dehghani Seyed Mohsen²

Affiliation:

1. Neonatal Research Center Shiraz University of Medical Science Shiraz Iran

2. Gastroenterohepatology Research Center Nemazee Teaching HospitalShiraz University of Medical Sciences Shiraz Iran

Funder

Shiraz University of Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1805

Reference8 articles.

1. Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database

2. The patient presenting with isolated hyperbilirubinemia

3. UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

4. Crigler‐Najjar syndrome type II diagnosed in a patient with jaundice since birth;Liaqat A.;Journal of the College of Physicians and Surgeons Pakistan,2018

5. Liver cell transplantation for Crigler-Najjar syndrome type I: Update and perspectives

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1. Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia;Pediatrics & Neonatology;2024-09

2. Molecular genetic aspects of Gilbert's syndrome, Crigler-Najjar syndromes types I and II;Experimental and Clinical Gastroenterology;2023-01-18