Glutaric acidemia type II:: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

被引：86

作者：

Goodman, SI ^{[1
]}

Binard, RJ ^{[1
]}

Woontner, MR ^{[1
]}

Frerman, FE ^{[1
]}

机构：

[1] Univ Colorado, Hlth Sci Ctr, Dept Pediat, Denver, CO 80262 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 77卷 / 1-2期

关键词：

glutaric acidemia type II; ETF : ubiquinone oxidoreductase;

D O I：

10.1016/S1096-7192(02)00138-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Glutaric acidemia type II is a human inborn error of metabolism which can be due to defects in either subunit of electron transfer flavoprotein (ETF) or in ETF:ubiquinone oxidoreductase (ETF:QO), but few disease-causing mutations have been described. The ETF:QO gene is located on 4q33, and contains 13 exons. Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes. (C) 2002 Elsevier Science (USA). All rights reserved.

引用

页码：86 / 90

页数：5

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