| Literature DB >> 9627603 |
Y Maruo1, H Sato, T Yamano, Y Doida, M Shimada.
Abstract
We report a case of Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of the bilirubin UDP-glucuronosyltransferase gene. Homozygous missense mutations of the gene have previously been recognized as responsible for Crigler-Najjar syndrome type II. We conclude that Gilbert syndrome in some patients results from homozygous missense mutations of the UDP-glucuronosyltransferase gene.Entities:
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Year: 1998 PMID： 9627603 DOI： 10.1016/s0022-3476(98)70408-1
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406