发明公开
EP0126544A2 Phenylalanine hydroxylase cDNA clones, their methods of production and use in diagnosing classical phenylketonuria
失效
苯丙氨酸羟化酶的cDNA克隆，它们的制备方法以及它们用于古典苯丙酮尿症的诊断中的用途。
- 专利标题： Phenylalanine hydroxylase cDNA clones, their methods of production and use in diagnosing classical phenylketonuria
- 专利标题（中）： 苯丙氨酸羟化酶的cDNA克隆，它们的制备方法以及它们用于古典苯丙酮尿症的诊断中的用途。
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申请号： EP84302559.4申请日： 1984-04-13
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公开(公告)号： EP0126544A2公开(公告)日： 1984-11-28
- 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
- 申请人： HOWARD HUGHES MEDICAL INSTITUTE
- 申请人地址： 3645 Main Highway Coconut Grove Florida 33133 US
- 专利权人： HOWARD HUGHES MEDICAL INSTITUTE
- 当前专利权人： HOWARD HUGHES MEDICAL INSTITUTE
- 当前专利权人地址： 3645 Main Highway Coconut Grove Florida 33133 US
- 代理机构： Pennant, Pyers
- 优先权： US484816 19830414
- 主分类号： C12N15/00
- IPC分类号： C12N15/00 ; C12Q1/68 ; C12N1/20
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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