黄蛋白
氧化还原酶
基因
遗传学
外显子
突变
生物
分子生物学
生物化学
酶
作者
Stephen I. Goodman,Robert J Binard,Michael Woontner,Frank E. Frerman
标识
DOI:10.1016/s1096-7192(02)00138-5
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.
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