- 专利标题： Polycystic kidney disease PKD2 gene and uses thereof
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申请号： US651999申请日： 1996-05-23
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公开(公告)号： US06031088A公开(公告)日： 2000-02-29
- 发明人: Stefan Somlo , Toshio Mochizuki
- 申请人： Stefan Somlo , Toshio Mochizuki
- 申请人地址： NY Bronx
- 专利权人： Albert Einstein College of Medicine of Yeshiva University
- 当前专利权人： Albert Einstein College of Medicine of Yeshiva University
- 当前专利权人地址： NY Bronx
- 主分类号： C07K14/47
- IPC分类号： C07K14/47 ; C07H21/04
摘要：
The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
公开/授权文献
- US5075831A Lighting fixture assembly 公开/授权日：1991-12-24
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