Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene

被引：20

作者：

Iolascon, A

Meloni, A

Coppola, B

Rosatelli, MC

机构：

[1] Univ Cagliari, Ist Clin & Biol Eta Evolut, I-09121 Cagliari, Italy

[2] Univ Bari, Dipartimento Biomed Eta Evolut, Bari, Italy

[3] CNR, Ist Ric Talassemie & Anemie Mediterranee, Cagliari, Italy

[4] Univ Cagliari, Dipartimento Biochim & Fisiol Umana, I-09124 Cagliari, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 09期

关键词：

D O I：

10.1136/jmg.37.9.712

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：712 / 713

页数：2

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[8] A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II [J].

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[9] Analysis of bilirubin uridine 5′-diphosphate in (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II [J].

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