发明申请
US20050214757A1 Diagnosis and therapy of conditions by detection or modulation of the alms1 gene or protein
审中-公开
通过检测或调节alms1基因或蛋白质来诊断和治疗病症
- 专利标题： Diagnosis and therapy of conditions by detection or modulation of the alms1 gene or protein
- 专利标题（中）： 通过检测或调节alms1基因或蛋白质来诊断和治疗病症
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申请号： US10492634申请日： 2002-10-15
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公开(公告)号： US20050214757A1公开(公告)日： 2005-09-29
- 发明人: David Wilson , Thomas Hearn , Mark Walker
- 申请人： David Wilson , Thomas Hearn , Mark Walker
- 优先权： GB01246214 20011015; GB01253186 20011022; GB02002483 20020107; GB2030393 20020208; GB02030401 20020208
- 国际申请： PCT/GB02/04658 WO 20021015
- 主分类号： C07K14/47
- IPC分类号： C07K14/47 ; C12Q1/68 ; G01N33/68
摘要：
A method of diagnosing the presence of, or susceptibility to, retinal dystrophy, cardiomyopathy endocrinopathy, diabetes or Alstrom disease in an individual, which method comprises typing in a sample from the individual the ALMS1 protein or ALMS1 gene region of the individual, or detecting aberrant ALMS1 activity, and thereby determining whether the individual has, or is susceptible to, retinal dystrophy, cardiomyopathy, endocrinopathy, diabetes or Alstrom disease. Use of an agent that modulates (i) the ALMS1 protein, or (ii) a component that affects or is affected by ALMS1, in the manufacture of a medicament for prevention or treating retinal dystrophy, cardiomyopathy, endocrinopathy, diabetes or Alstrom disease.
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