- 专利标题: Human galactokinase gene
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申请号: US451777申请日: 1995-05-26
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公开(公告)号: US5789223A公开(公告)日: 1998-08-04
- 发明人: Derk Jon Bergsma , Dwight Edward Stambolian , Steven M. Ruben , Craig A. Rosen
- 申请人: Derk Jon Bergsma , Dwight Edward Stambolian , Steven M. Ruben , Craig A. Rosen
- 申请人地址: PA Philadelphia PA Philadelphia
- 专利权人: SmithKline Beecham Corporation,The Trustees of the University of Pennsylvania
- 当前专利权人: SmithKline Beecham Corporation,The Trustees of the University of Pennsylvania
- 当前专利权人地址: PA Philadelphia PA Philadelphia
- 主分类号: A61K38/00
- IPC分类号: A61K38/00 ; A61K48/00 ; C12N9/12 ; C12N15/54 ; C12N15/85
摘要:
This invention relates to human galactokinase and the identification of galactokinase mutations, a missense and nonsense, as well as isolated nucleic acids encoding same, recombinant host cell transformed with DNA encoding such proteins and to uses of the expressed proteins and nucleic acid sequences in therapeutic and diagnostic applications.