Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene

被引：42

作者：

Maruo, Y

Sato, H ^{[1
]}

Yamano, T

Doida, Y

Shimada, M

机构：

[1] Shiga Univ Med Sci, Dept Biol, Otsu, Shiga 52021, Japan

[2] Shiga Univ Med Sci, Dept Pediat, Otsu, Shiga 52021, Japan

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(98)70408-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

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页码：1045 / 1047

页数：3

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