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61.发明公开Phenylalanine hydroxylase cDNA clones, their methods of production and use in diagnosing classical phenylketonuria 失效苯丙氨酸羟脯氨酸CDNA克隆，其生产方法和用于诊断经典苯丙酸的方法
公开(公告)号：EP0126544A3
公开(公告)日：1986-12-03
申请号：EP84302559
申请日：1984-04-13
发明人： Woo, Savio L.C. , Thirumalachary, T. Chandra c/o T. Venkata Varadan , Lidsky, Alan S. , Robson, Kathryn J.H. Nuffield Department of
CPC分类号： C12N9/0071 , C12Q1/683 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172 , C12Y114/16001
摘要： Described are phenylalanine hydroxylase cDNA clones, methods of their production, and the use of these clones in the diagnosis of the human genetic disorder, classical phenylketonuria (PKU), a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans, and the identification of heterozygous trait carriers.
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