文章基本信息

标题：Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria
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作者：Paul A. Friedman ; Daniel B. Fisher ; Ellen S. Kang 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1973
卷号：70
期号：2
页码：552-556
DOI：10.1073/pnas.70.2.552
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1 ) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.
关键词：genetic disease ; tetrahydrobiopterin ; lysolecithin