发明名称 |
Gene responsible for Stargardt-like dominant macular dystrophy |
摘要 |
The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.
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申请公布号 |
US7091005(B2) |
申请公布日期 |
2006.08.15 |
申请号 |
US20030276732 |
申请日期 |
2003.10.03 |
申请人 |
MERCK & CO., INC.;UNIV JOHNS HOPKINS |
发明人 |
PETRUKHIN KONSTANTIN;LI WEN;ZHANG KANG |
分类号 |
C12P21/06;A61K38/00;C07H21/04;C07K14/705;C12N1/20;C12N15/00;C12Q1/68 |
主分类号 |
C12P21/06 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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