Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1805
Abstract: To the Editor, Crigler– Najjar syndrome (CN) is a rare inherited disorder with a frequency of one per million. CN is characterized by nonhemolytic unconjugated hyperbilirubinemia. Unconjugated hyperbilirubinemia is caused by the limitation or absence… read more here.
Keywords: 1160 mutation; bilirubin; activity; mutation ... See more keywords