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    • 85. 发明授权
    • Human hypoxanthine- (guanine) phosphoribosyl transferase-2
    • 人类次黄嘌呤(鸟嘌呤)磷酸核糖转移酶-2
    • US06653446B2
    • 2003-11-25
    • US09189833
    • 1998-11-12
    • Daniel P. BednarikCraig A. RosenMark D. Adams
    • Daniel P. BednarikCraig A. RosenMark D. Adams
    • C07K100
    • C12N9/1077A61K38/00
    • A human HPRT-2 polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for the treatment of nephrolithiasis, anemia, precocious gout, kidney stones, Lesch-Nyhan syndrome, renal failure and uricaciduria. Antagonists against such polypeptides and their use as a therapeutic to treat disorders associated with excessive purine synthesis are also disclosed. Diagnostic assays for identifying mutations in nucleic acid sequence encoding a polypeptide of the present invention and for detecting altered levels of the polypeptide of the present invention are also disclosed.
    • 公开了编码这种多肽的人HPRT-2多肽和DNA(RNA),以及通过重组技术产生这种多肽的方法。 还公开了利用这种多肽治疗肾结石,贫血,早熟性痛风,肾结石,莱斯 - 尼汉综合征,肾衰竭和尿酸尿的方法。 还公开了抗这些多肽的拮抗剂及其作为治疗用于治疗与过量嘌呤合成相关的疾病的用途。 还公开了用于鉴定编码本发明多肽的核酸序列中突变和用于检测本发明多肽的改变水平的诊断测定。