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. |
申请公布号 |
EP1283897(A2) |
申请公布日期 |
2003.02.19 |
申请号 |
EP20010935445 |
申请日期 |
2001.05.11 |
申请人 |
MERCK & CO., INC.;THE JOHNS HOPKINS UNIVERSITY |
发明人 |
PETRUKHIN, KONSTANTIN;LI, WEN;ZHANG, KANG |
分类号 |
C07K14/47;C12Q1/68;(IPC1-7):C12P21/06;A61P27/00;G01N33/53;C12N1/20 |
主分类号 |
C07K14/47 |
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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