Open AccessUpdate on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1
Author(s) -
Ghorbani Mohammad Javad,
Dehghani Seyed Mohsen
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1805
Subject(s) - unconjugated hyperbilirubinemia , kernicterus , phenobarbital , bilirubin , liver transplantation , medicine , glucuronosyltransferase , missense mutation , jaundice , transplantation , chemistry , enzyme , mutation , biochemistry , gene , microsome